Research Topics
Species | Nicola LongoSummaryAffiliation: University of Utah Country: USA Publications
Research Grants
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Detail Information
Publications
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutationN Longo
Department of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah, USA
J Inherit Metab Dis 27:691-2. 2004..Before confirmation of diagnosis, daily dialysis was the only mechanism by which to normalize her persistent metabolic acidosis of unknown aetiology...
Disorders of biopterin metabolismNicola Longo
Division of Medical Genetics, Department of Pediatrics and Pathology, University of Utah, 2C 412 SOM, 50 North Mario Capecchi Drive, Salt Lake City, UT 84132, USA
J Inherit Metab Dis 32:333-42. 2009..Several patients with BH4 deficiency treated since the newborn period have reached adult age with good outcome...- Inborn errors of metabolism: new challenges with expanded newborn screening programsNicola Longo
Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA
Am J Med Genet C Semin Med Genet 142:61-3. 2006 - Disorders of creatine transport and metabolismNicola Longo
Division of Medical Genetics, University of Utah, Salt Lake City, 84132, USA
Am J Med Genet C Semin Med Genet 157:72-8. 2011..The excellent response to therapy of early identified patients with GAMT or AGAT deficiency candidates these condition for inclusion in newborn screening programs... - Mitochondrial encephalopathyNicola Longo
Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
Neurol Clin 21:817-31. 2003..Therapy for mitochondrial disorders remains largely ineffective... - Progressive cerebral vascular degeneration with mitochondrial encephalopathyNicola Longo
Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
Am J Med Genet A 146:361-7. 2008..The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear... 
Disorders of carnitine transport and the carnitine cycleNicola Longo
Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA
Am J Med Genet C Semin Med Genet 142:77-85. 2006....- Genotype-phenotype correlation in inherited severe insulin resistanceNicola Longo
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City 84103, USA
Hum Mol Genet 11:1465-75. 2002..These results indicate that mutations in the insulin receptor retaining residual insulin-binding correlate with prolonged survival in our series of patients with extreme insulin resistance... - Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuriaN Longo
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA
J Inherit Metab Dis 30:910-5. 2007..This correlation supports the feasibility of iontophoretic phenylalanine extraction for monitoring phenylketonuria... - Genotype-phenotype correlation in primary carnitine deficiencyEmily C Rose
Division of Medical Genetics Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Hum Mutat 33:118-23. 2012..These results indicate that cells from asymptomatic women have on average higher levels of residual carnitine transport activity as compared to that of symptomatic patients due to the presence of at least one missense mutation... - Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporterCristina Amat di San Filippo
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
J Biol Chem 279:7247-53. 2004..These natural mutations identify tyrosine residues possibly involved in coupling the sodium electrochemical gradient to transmembrane solute transfer in the sodium-dependent co-transporter OCTN2... - Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiencyCristina Amat di San Filippo
Department of Pediatrics and Pathology, University of Utah, Salt Lake City, UT 84132, USA
Biochim Biophys Acta 1812:312-20. 2011..Glycosylation does not affect maturation of OCTN2 transporters to the plasma membrane, but the 3 asparagines that are normally glycosylated are located in a region important for substrate recognition and turnover rate... - Pharmacological rescue of carnitine transport in primary carnitine deficiencyCristina Amat di San Filippo
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
Hum Mutat 27:513-23. 2006..These results indicate that OCTN2 mutations can affect carnitine transport by impairing maturation of transporters to the plasma membrane. Pharmacological therapy can be effective in partially restoring activity of mutant transporters... - Cardiomyopathy and carnitine deficiencyCristina Amat di San Filippo
Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
Mol Genet Metab 94:162-6. 2008..These results indicate that heterozygosity for primary carnitine deficiency is not more frequent in patients with unselected types of cardiomyopathy and is unlikely to be an important cause of cardiomyopathy in humans... - Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 geneSteven F Dobrowolski
Idaho Technology, Salt Lake City, Utah, USA
Hum Mutat 25:306-13. 2005..These results expand the mutational spectrum in primary carnitine deficiency and indicate dye-binding/high-resolution thermal denaturation as an ideal system to screen for mutations in diseases with no prevalent molecular alteration... - A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne 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... - Creatine transporter deficiency in two half-brothersOrly Ardon
Division of Medical Genetics, ARUP Inst Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah
Am J Med Genet A 152:1979-83. 2010..These results show that human fibroblasts have a single major creatine transporter and that measurement of its specific activity can confirm creatine transporter deficiency... - A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndromeReha M Toydemir
Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
Am J Hum Genet 79:935-41. 2006..R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function. These findings indicate that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth... - Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiencyCristina Amat di San Filippo
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
J Biol Chem 278:47776-84. 2003..These studies indicate that multiple domains of the OCTN2 transporter are required for carnitine transport and identify transmembrane residues important for carnitine recognition... - Glutaric acidemia type 1: outcomes before and after expanded newborn screeningKrista Viau
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
Mol Genet Metab 106:430-8. 2012..0055 for oral motor function and ambulatory capability; p=0.023 for dystonic movements). Newborn screening is effective in the prevention of complications in patients with GA-1 when coupled with treatment strategies... - Glutaric acidemia type 1Gary L Hedlund
Radiology, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT, USA
Am J Med Genet C Semin Med Genet 142:86-94. 2006..Early diagnosis and therapy reduce the risk of acute dystonia in patients with GA-1... - Gene expression in human cells with mutant insulin receptorsRoberta Melis
Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84103, USA
Biochem Biophys Res Commun 307:1013-20. 2003..Decreased expression of growth-promoting genes may explain the growth restriction of patients with severe insulin resistance... - A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiencyGeorgianne 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... - 6q subtelomeric deletion: is there a recognizable syndrome?David A Stevenson
Department of Pediatrics, Divisions of Medical Genetic and Neurology, University of Utah, Salt Lake City, Utah, USA
Clin Dysmorphol 13:103-6. 2004..Subtelomeric FISH probes were useful in establishing a diagnosis in our patient. As more cases are reported, we may be able to establish discrete phenotypes and natural histories that can aid in counselling families... - Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuriaKrista S Viau
Department Pediatrics, University of Utah, Salt Lake City, UT, USA
J Inherit Metab Dis 34:963-71. 2011.... - Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experienceElisabeth Schwarz
ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah 84108, USA
Pediatr Res 66:230-5. 2009..This approach was effective in identifying infants with CAH, with both salt-wasting and simple virilizing forms, while reducing the false-positive rate from 2.6 to 0.09%... - Diagnostic guidelines for newborns who screen positive in newborn screeningDavid Kronn
Department of Pediatrics, New York Medical College, Valhalla, New York, USA
Genet Med 12:S251-5. 2010..org/msms_data_project/data_project_home.aspx). Definition of some disorders is problematic-does continued abnormality of the screening analyte constitute diagnosis or is further testing necessary?.. - Biochemical findings in common inborn errors of metabolismMarzia Pasquali
University of Utah, and ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
Am J Med Genet C Semin Med Genet 142:64-76. 2006..Early treatment can improve the outcome of these disorders... - Using information prescriptions to refer patients with metabolic conditions to the Genetics Home Reference websiteDenise E Beaudoin
Department of Biomedical Informatics, University of Utah, Salt Lake City, UT 84112, USA
J Med Libr Assoc 99:70-6. 2011.... - Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes researchErica L Wright
Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA
Genet Med 12:S228-41. 2010..This article presents the rationale and design of the Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-up Study... - A primer on newborn screeningKristin Gatrell Bryant
Newborn Critical Care Services, Primary Children s Medical Center, Salt Lake City, Utah, USA
Adv Neonatal Care 4:306-17. 2004..Providers are also responsible for informing parents about the implications of newborn screening to improve awareness and understanding... - Metabolic changes associated with hyperammonemia in patients with propionic acidemiaHeather R Filipowicz
Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Mol Genet Metab 88:123-30. 2006.... - Expanded newborn screening identifies maternal primary carnitine deficiencyLisa 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... - Developing a National Registry for conditions identifiable through newborn screeningJeffrey R Botkin
Department of Pediatrics, Division of Medical Ethics, University of Utah, 2000 East 75 South 108, Salt Lake City, UT 84112, USA
Genet Med 11:176-82. 2009..This article provides an overview of the justification for such a system and recommendations for a design... - Recurrent liver failure in a 25-year-old femaleJefrey Salek
Department of Medicine, University of Utah, Salt Lake City, UT 84132, USA
Liver Transpl 16:1049-53. 2010..Our case illustrates the importance of screening patients with idiopathic ALF for a metabolic disorder. A prompt diagnosis and timely treatment enabled her to recover fully without the need for liver transplantation... - Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotypeDavid A Stevenson
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 130:88-91. 2004..Our patient and the previously reported cases support a discrete recognizable phenotype for paternal UPD for chromosome 14... - Phenotype and genotype variation in primary carnitine deficiencyY Wang
Division of Medical Genetics, Department of Pediatrics, Emory University, Atlanta, Georgia, USA
Genet Med 3:387-92. 2001..CONCLUSIONS: Heterogeneous mutations in the SLC22A5 gene cause primary carnitine deficiency. Different presentations are observed even in children with identical mutations... - A missense mutation in the OCTN2 gene associated with residual carnitine transport activityY Wang
Division of Medical Genetics, Department of Pediatrics, Emory University, Atlanta, Georgia 30322, USA
Hum Mutat 15:238-45. 2000..These results indicate that primary carnitine deficiency can be caused by mutations encoding for carnitine transporters with residual activity, and that the E452K affects a domain not involved in carnitine recognition... - Role of arginine 86 of the insulin receptor in insulin binding and activation of glucose transportN Longo
Department of Pediatrics, Emory University, Atlanta, GA 30322, USA
Biochim Biophys Acta 1402:86-94. 1998..Substitution with glycine allows insulin binding, but does not activate normally glucose transport, further supporting an essential role of this position in the initiation of insulin receptor signalling of glucose transport... - Insulin increases the turnover rate of Na+-K+-ATPase in human fibroblastsN Longo
Division of Medical Genetics, Department of Pediatrics, Emory University, 2040 Ridgewood Drive, Atlanta, GA 30322, USA
Am J Physiol Cell Physiol 280:C912-9. 2001..These results indicate that insulin increases the turnover rate of Na+-K+-ATPases of human fibroblasts without affecting their number on the plasma membrane or modifying their dependence on intracellular [Na+]... - Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutationVito 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... - Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduriaC Melissa Dobson
Department of Biochemistry and Molecular Biology, University of Calgary, Canada
Mol Genet Metab 88:327-33. 2006..We conclude that the patient's MCEE defect was responsible for the mild methylmalonic aciduria, confirming a partial requirement for the enzymatic activity in humans...
Research Grants
- THE CARNITINE TRANSPORTER IN HUMAN DISEASENicola Longo; Fiscal Year: 2009....
- Anaplerotic therapy in Propionic AcidemiaNicola Longo; Fiscal Year: 2007..This approach, if effective, could be extended to a number of other diseases, including other organic acidemias and mitochondrial disorders. ..
- CARNITINE TRANSPORTER IN HUMAN DISEASENicola Longo; Fiscal Year: 2003..This research will characterize mutations responsible for primary carnitine deficiency and clarify the function of a new class of membrane transporters whose alteration may cause other types of human diseases. ..
- THE CARNITINE TRANSPORTER IN HUMAN DISEASENicola Longo; Fiscal Year: 2010....