Dietrich Matern

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi request reprint Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts
    Karen A Kramer
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 51:2110-6. 2005
  2. doi request reprint Newborn screening for lysosomal storage disorders
    Dietrich Matern
    Biochemical Genetics Laboratory, Departments of Laboratory Medicine and Pathology, Pediatric and Adolescent Medicine, and Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA
    Acta Paediatr 97:33-7. 2008
  3. doi request reprint Newborn screening for lysosomal storage disorders
    Dietrich Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN Electronic address
    Semin Perinatol 39:206-16. 2015
  4. pmc Newborn screening for lysosomal storage disorders and other neuronopathic conditions
    Dietrich Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Dev Disabil Res Rev 17:247-53. 2013
  5. ncbi request reprint Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
    D Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Mol Genet Metab 72:265-8. 2001
  6. ncbi request reprint Glycogen storage disease type I: diagnosis and phenotype/genotype correlation
    Dietrich Matern
    Biochemical Genetics Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Eur J Pediatr 161:S10-9. 2002
  7. ncbi request reprint Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)
    D Matern
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Inherit Metab Dis 30:585-92. 2007
  8. ncbi request reprint Mass spectrometry methods for metabolic and health assessment
    D Matern
    Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    J Nutr 131:1615S-20S. 2001
  9. ncbi request reprint Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
    Dietrich Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Pediatrics 112:74-8. 2003
  10. doi request reprint Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
    Emily H Smith
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    Mol Genet Metab 100:241-50. 2010

Detail Information

Publications66

  1. ncbi request reprint Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts
    Karen A Kramer
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 51:2110-6. 2005
    ..Current assay methods are time-consuming and labor-intensive and thus constitute a major impediment to clinical practice. A method with a faster turnaround time would therefore be beneficial...
  2. doi request reprint Newborn screening for lysosomal storage disorders
    Dietrich Matern
    Biochemical Genetics Laboratory, Departments of Laboratory Medicine and Pathology, Pediatric and Adolescent Medicine, and Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA
    Acta Paediatr 97:33-7. 2008
    ..One applies tandem mass spectrometry, the other microbead array technology. Now, prospective studies are needed to determine the most effective approach to newborn screening that will identify those patients who require treatment...
  3. doi request reprint Newborn screening for lysosomal storage disorders
    Dietrich Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN Electronic address
    Semin Perinatol 39:206-16. 2015
    ..Here, we review the current state of newborn screening for these lysosomal storage disorders. ..
  4. pmc Newborn screening for lysosomal storage disorders and other neuronopathic conditions
    Dietrich Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Dev Disabil Res Rev 17:247-53. 2013
    ..Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia...
  5. ncbi request reprint Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
    D Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Mol Genet Metab 72:265-8. 2001
    ..We speculate that the child's autosomal recessive fatty acid beta-oxidation disorder and the pregnancy complication are causally related...
  6. ncbi request reprint Glycogen storage disease type I: diagnosis and phenotype/genotype correlation
    Dietrich Matern
    Biochemical Genetics Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Eur J Pediatr 161:S10-9. 2002
    ..Seventeen different mutations were detected in the GSD I non-a patients. True common mutations were identified neither in GSD Ia nor in GSD I non-a patients...
  7. ncbi request reprint Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)
    D Matern
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Inherit Metab Dis 30:585-92. 2007
    ..09%, a positive predictive value of 41%, and a positive detection rate of 1 affected case in 1672 babies screened...
  8. ncbi request reprint Mass spectrometry methods for metabolic and health assessment
    D Matern
    Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    J Nutr 131:1615S-20S. 2001
    ..Several of these new applications are considered with regard to clinical medicine...
  9. ncbi request reprint Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
    Dietrich Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Pediatrics 112:74-8. 2003
    ..A sibling of the first patient is asymptomatic after prenatal diagnosis and early treatment. Family investigations in the second family revealed that the patient's mother was also affected but asymptomatic...
  10. doi request reprint Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
    Emily H Smith
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    Mol Genet Metab 100:241-50. 2010
    ....
  11. doi request reprint Enhanced interpretation of newborn screening results without analyte cutoff values
    Gregg Marquardt
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Genet Med 14:648-55. 2012
    ..To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries...
  12. doi request reprint Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry
    Coleman T Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 56:1686-95. 2010
    ..To improve this situation, we developed a method for the detection of tHCY, MMA, and MCA in dried blood spots (DBSs) by liquid chromatography-tandem mass spectrometry (LC-MS/MS)...
  13. doi request reprint Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots
    Coleman Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 54:657-64. 2008
    ..To overcome these problems, we developed a new assay that simultaneously determines acylcarnitines (AC), amino acids (AA), and SUAC in dried blood spots (DBS) by flow injection tandem mass spectrometry (MS/MS)...
  14. ncbi request reprint Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
    Carla Z Minutti
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Clin Endocrinol Metab 89:3687-93. 2004
    ..This would prevent unnecessary blood draws, medical evaluations, and stress to families...
  15. ncbi request reprint Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification
    Regina Ensenauer
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Genet Med 7:339-43. 2005
    ..The common MCAD gene (ACADM) mutation 985A>G (p.K329E), accounting for the majority of cases in Caucasians, has not been detected in this ethnic group, and the spectrum of ACADM mutations has remained unknown...
  16. doi request reprint Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)
    Devin Oglesbee
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 54:542-9. 2008
    ..To improve the specificity of newborn screening for MSUD and to reduce the number of diet-related false-positive results, we developed a LC-MS/MS method for quantifying allo-Ile...
  17. doi request reprint Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry
    Silvia Tortorelli
    Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN 55905, USA
    J Pediatr 157:271-5. 2010
    ..To validate a 2-tier approach for newborn screening (NBS) of remethylation defects...
  18. doi request reprint An adult onset case of alpha-methyl-acyl-CoA racemase deficiency
    Emily Helen Smith
    Biochemical Genetics Laboratory Hilton 3 10 02, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    J Inherit Metab Dis 33:S349-53. 2010
    ..Dietary pristanic acid restriction was attempted to improve clinical status and the patient has remained in remission for more than 16 months...
  19. ncbi request reprint Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry
    Jean M Lacey
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 50:621-5. 2004
    ....
  20. ncbi request reprint Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
    Devin Oglesbee
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Genet Med 9:108-16. 2007
    ..To delineate the correct diagnosis, we have developed a follow-up algorithm for abnormal C4-acylcarnitine newborn screening results based on the comparison of biomarkers for both conditions...
  21. ncbi request reprint Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I
    Mark J Magera
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 88:16-21. 2006
    ..Succinylacetone (SUAC) is a specific marker for TYR 1 but not detectable by routine newborn screening. We developed a new assay that determines SUAC in DBS by liquid-chromatography tandem mass spectrometry (LC-MS/MS)...
  22. doi request reprint Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy
    Coleman T Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 114:46-50. 2015
    ..We describe a high-throughput method for measurement of C20-C26 lysophosphatidylcholines (LPCs) and biochemical diagnosis of X-ALD using the same dried blood spots (DBS) routinely used for newborn screening...
  23. pmc High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood
    Devin Oglesbee
    Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, and
    Clin Chem 59:1461-9. 2013
    ..To facilitate the diagnosis and monitoring of FRDA patients, we developed an immunoassay for measuring FXN...
  24. ncbi request reprint Recent developments and new applications of tandem mass spectrometry in newborn screening
    Piero Rinaldo
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Curr Opin Pediatr 16:427-33. 2004
    ..To summarize recent developments in the field of newborn screening related to the use of tandem mass spectrometry as an analytic platform...
  25. doi request reprint Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry
    Silvia Tortorelli
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
    Clin Chem 62:1248-54. 2016
    ..We developed an efficient and cost-effective multiplex assay to diagnose six LSDs and several peroxisomal disorders in patients presenting with diverse phenotypes at any age...
  26. doi request reprint Homogentisic acid interference in routine urine creatinine determination
    Perry R Loken
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 100:103-4. 2010
    ..The low creatinine values were due to interference by HGA in the enzymatic method. The enzymatic method is unsuitable for creatinine determination in urine of patients with alkaptonuria...
  27. ncbi request reprint A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA
    Mol Genet Metab 93:363-70. 2008
    ..This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for 3-MCC deficiency and to encourage the development of evidence-based guidelines...
  28. ncbi request reprint Making the case for objective performance metrics in newborn screening by tandem mass spectrometry
    Piero Rinaldo
    Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Ment Retard Dev Disabil Res Rev 12:255-61. 2006
    ..On the basis of our experience, we propose the following targets as evidence of adequate analytical and postanalytical performance: detection rate 1:3,000 or higher, positive predictive value>20%, and false positive rate<0.3%...
  29. doi request reprint Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease
    Coleman T Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN, 55905, USA
    J Inherit Metab Dis 38:923-9. 2015
    ..Psychosine (PSY) is a putative marker of KD progression and can be measured in dried blood spots (DBS). We sought to determine the role that PSY levels play in NBS for KD, follow up, and treatment monitoring...
  30. doi request reprint Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome
    Patricia Hall
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Mol Genet Metab 110:176-8. 2013
    ..The medication history of these individuals revealed aripiprazole and trazodone as common medications to all the false positive results. ..
  31. pmc A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
    Georgianne L Arnold
    Department of Pediatrics, University of Rochester, School of Medicine and Dentistry, Rochester, NY 14642, USA
    Mol Genet Metab 96:85-90. 2009
    ..This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for VLCAD deficiency until evidence-based guidelines are available...
  32. ncbi request reprint The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots
    Narasimhan Nagan
    Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Mol Genet Metab 78:239-46. 2003
    ..0001). However, none of the observed genotypes was associated with a concentration of C(4)-acylcarnitine that would be consistent with a biochemical diagnosis of SCAD deficiency...
  33. pmc Composition of protein supplements used for human embryo culture
    Dean E Morbeck
    Department of Obstetrics and Gynecology, Mayo Clinic, Charlton 3A, Rochester, MN, 55905, USA
    J Assist Reprod Genet 31:1703-11. 2014
    ..To determine the composition of commercially available protein supplements for embryo culture media and test if differences in protein supplement composition are biologically relevant in a murine model...
  34. ncbi request reprint Expanded newborn screening identifies maternal primary carnitine deficiency
    Lisa A Schimmenti
    University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA
    Mol Genet Metab 90:441-5. 2007
    ..Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs...
  35. pmc A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
    Regina Ensenauer
    Department of Laboratory Medicine and Pathology, Division of Clinical Epidemiology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Am J Hum Genet 75:1136-42. 2004
    ..Our findings indicate the frequent occurrence of a novel mild and potentially asymptomatic phenotype of IVA. This has significant consequences for patient management and counseling...
  36. doi request reprint Newborn screening of metabolic disorders: recent progress and future developments
    Piero Rinaldo
    Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Nestle Nutr Workshop Ser Pediatr Program 62:81-93; discussion 93-6. 2008
    ..If approved, these conditions could be added to the uniform panel and consequently pave the way to large scale implementation...
  37. ncbi request reprint In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase
    J Lawrence Merritt
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA
    Mol Genet Metab 88:351-8. 2006
    ..Following tail vein injection of pCMV-hVLCAD into mice, we demonstrated expression of hVLCAD in liver. Altogether, these steps are important in the development of a durable gene therapy for VLCAD deficiency...
  38. ncbi request reprint Fatty acid oxidation disorders
    Piero Rinaldo
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Biochemical Genetics Laboratory, Rochester, Minnesota 55905, USA
    Annu Rev Physiol 64:477-502. 2002
    ..This review addresses the normal process of mitochondrial fatty acid beta-oxidation and discusses the clinical, metabolic, and molecular aspects of more than 20 known inherited diseases of this pathway that have been described to date...
  39. ncbi request reprint Clinical biochemical genetics in the twenty-first century
    P Rinaldo
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Acta Paediatr Suppl 93:22-6; discussion 27. 2004
    ....
  40. ncbi request reprint Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
    Charles A Kroll
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Mol Genet Metab 89:134-8. 2006
    ..These findings support that presymptomatic screening for Wilson disease using dried blood spots could be possible, even in the newborn period...
  41. doi request reprint Potential of inner cell mass outgrowth and amino acid turnover as markers of quality in the in vitro fertilization laboratory
    Ravi P Gada
    Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, Minnesota 55901, USA
    Fertil Steril 98:863-9.e1. 2012
    ....
  42. doi request reprint Acylcarnitine analysis by tandem mass spectrometry
    Emily H Smith
    Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Curr Protoc Hum Genet . 2010
    ....
  43. doi request reprint Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
    David M S McHugh
    Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Genet Med 13:230-54. 2011
    ..To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort...
  44. doi request reprint Acylcarnitine profile analysis
    Piero Rinaldo
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Genet Med 10:151-6. 2008
    ..They also are advised to take notice of the date any particular standard or guidelines was adopted, and to consider other relevant medical and scientific information that becomes available after that date...
  45. ncbi request reprint In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector
    David B Schowalter
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA
    Mol Genet Metab 85:88-95. 2005
    ....
  46. doi request reprint Composition of commercial media used for human embryo culture
    Dean E Morbeck
    Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, Minnesota Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota Electronic address
    Fertil Steril 102:759-766.e9. 2014
    ..To determine the composition of commercially available culture media and test whether differences in composition are biologically relevant in a murine model...
  47. ncbi request reprint Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life
    Regina Ensenauer
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA
    Mol Genet Metab 84:363-6. 2005
    ..Although technically challenging in the neonatal period, liver transplantation should be considered early as the most promising treatment approach currently available...
  48. ncbi request reprint Liquid chromatography-tandem mass spectrometry method for the determination of vanillylmandelic acid in urine
    Mark J Magera
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Clin Chem 49:825-6. 2003
  49. ncbi request reprint Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector
    Thomas J Conlon
    Department of Pediatrics, Powell Gene Therapy Center, University of Florida, Gainesville, FL 32610, and Department of Pediatrics, Children s Hospital of Pittsburgh, PA, USA
    Hum Gene Ther 17:71-80. 2006
    ..This study is the first to demonstrate the systemic correction of a fatty acid oxidation disorder with rAAV and the utility of MRS as a noninvasive method to monitor SCAD correction after in vivo gene therapy...
  50. ncbi request reprint Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex
    Janice Yang Chou
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Mol Med 2:121-43. 2002
    ..Recently developed animal models of the disorders are now being exploited to delineate the disease more precisely and develop new, more causative therapies...
  51. ncbi request reprint Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine
    Lynne A Wolfe
    Division of Medical Genetics, Department of Pediatrics, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
    Pediatrics 120:e1335-40. 2007
    ....
  52. pmc Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    Melanie B Gillingham
    Departments of Pediatrics and Molecular and Medical Genetics, Oregon Health and Science University OHSU, Mail code CDRC F, P O Box 574, Portland, OR 97207 0574, USA
    Mol Genet Metab 79:114-23. 2003
    ..The diet should be supplemented with vegetable oils as part of the 10% total LCFA intake to provide essential fatty acids...
  53. ncbi request reprint A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency
    Sarah P Young
    Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    Clin Chim Acta 337:103-13. 2003
    ..The clinical and biochemical implications of these variants are not fully understood. The effect of these variants on the accumulation of butyrylcarnitine by fibroblasts in culture was studied...
  54. ncbi request reprint Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation
    Vito Iacobazzi
    Dipartimento Farmaco Biologico, University of Bari, Italy
    Am J Med Genet A 126:150-5. 2004
    ..These results suggest that carnitine and MCT may be effective in treating this defect of long-chain fatty acid oxidation...
  55. doi request reprint The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level
    Christina B Pedersen
    Research Unit for Molecular Medicine, Skejby and Faculty of Health Sciences, Aarhus University Hospital, Brendstrupgaardsvej 100, 8200, Aarhus, Denmark
    Hum Genet 124:43-56. 2008
    ..We propose that SCAD deficiency should be considered as a disorder of protein folding that can lead to clinical disease in combination with other genetic and environmental factors...
  56. pmc Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management
    Prem S Shekhawat
    Department of Pediatrics, Medical College of Georgia, Augusta 30912, USA
    Pediatr Res 57:78R-86R. 2005
    ..To ensure the long-term benefits of such screening programs, pediatricians and other health care providers must be educated about these disorders and their treatment...
  57. pmc Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice
    Ravi J Tolwani
    Department of Genetics, University of Alabama, Birmingham, Alabama, USA
    PLoS Genet 1:e23. 2005
    ..The MCAD-deficient mouse reproduced important aspects of human MCAD deficiency and is a valuable model for further analysis of the roles of fatty acid oxidation and pathogenesis of human diseases involving fatty acid oxidation...
  58. pmc Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD
    Stuart G Beattie
    University of Massachusetts Medical School, Worcester, MA 01655, USA
    Hum Gene Ther 19:579-88. 2008
    ..These results demonstrate biochemical correction of SCAD deficiency after AAV8-mediated SCAD gene delivery...
  59. ncbi request reprint Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
    Ingrid Tein
    Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8
    Mol Genet Metab 93:179-89. 2008
    ..This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim...
  60. ncbi request reprint Carnitine content and expression of mitochondrial beta-oxidation enzymes in placentas of wild-type (OCTN2(+/+)) and OCTN2 Null (OCTN2(-/-)) Mice
    Prem S Shekhawat
    Department of Pediatrics, Medical College of Georgia, Augusta, GA 30912, USA
    Pediatr Res 56:323-8. 2004
    ....
  61. ncbi request reprint Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome
    Karl Otfried Schwab
    Department of Paediatrics, Albert Ludwigs University Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany
    Eur J Pediatr 162:90-5. 2003
    ..In fibroblasts and liver, activities of all three catalytic units of MTP were markedly decreased, further confirming the diagnosis of MTP deficiency...
  62. pmc Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice
    Prem S Shekhawat
    Department of Pediatrics, Medical College of Georgia, Augusta, GA 30912, USA
    Mol Genet Metab 92:315-24. 2007
    ..Our studies suggest that carnitine supplementation, as a means of boosting fatty acid oxidation, may be therapeutically beneficial in patients with inflammation of the intestinal tract...
  63. ncbi request reprint Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation
    A Michele Schuler
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA
    Mol Genet Metab 85:7-11. 2005
    ..These results substantiate the concept of synergistic heterozygosity and illustrate the potential complexity involved in diagnosis and characterization of inborn errors of fatty acid metabolism in humans...
  64. ncbi request reprint Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation
    A Michele Schuler
    Department of Genetics, 720 20th Street South, Kaul Human Genetics Building 620A, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    Mol Genet Metab 83:322-9. 2004
    ....
  65. ncbi request reprint Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies
    Susan R Hintz
    Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, Palo Alto, California 94304, USA
    Mol Genet Metab 75:120-7. 2002
    ..However, timely analysis and reporting of results to clinicians are essential, because these disorders can manifest in the first few days of life...
  66. ncbi request reprint Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance
    Jamal A Ibdah
    Division of Gastroenterology, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Gastroenterology 128:1381-90. 2005
    ..In this study, we investigated effects of heterozygosity for the MTP defect on hepatic oxidative stress, insulin resistance, and development of NAFLD in mice...