Jorn Oliver Sass

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. doi request reprint 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
    Jorn Oliver Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, 79106 Freiburg, Germany
    J Inherit Metab Dis 35:437-42. 2012
  2. doi request reprint L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene
    J O Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, 79106, Freiburg, Germany
    J Inherit Metab Dis 31:S275-9. 2008
  3. ncbi request reprint 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism
    Jorn Oliver Sass
    Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstrasse 1, Freiburg, Germany
    Mol Genet Metab 93:30-5. 2008
  4. ncbi request reprint Neurological findings in aminoacylase 1 deficiency
    J O Sass
    Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics and Adolescent Medicine, University Children s Hospital Freiburg, Germany
    Neurology 68:2151-3. 2007
  5. doi request reprint Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia
    Jorn Oliver Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Brain Dev 32:544-9. 2010
  6. doi request reprint D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)
    Jorn Oliver Sass
    Labor für Klinische Biochemie and Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Germany
    Hum Mutat 31:1280-5. 2010
  7. doi request reprint Inborn errors of ketogenesis and ketone body utilization
    Jorn Oliver Sass
    Zentrum für Kinder und Jugendmedizin, Labor für Klinische Biochemie und Stoffwechsel, Universitatsklinikum Freiburg, Mathildenstr 1, 79106 Freiburg, Germany
    J Inherit Metab Dis 35:23-8. 2012
  8. ncbi request reprint Tracing the origin of L-2-hydroxyglutaric aciduria in a family
    Jorn Oliver Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, 79106, Freiburg, Germany
    Int J Neurosci 119:2118-23. 2009
  9. pmc Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
    Jorn Oliver Sass
    Department of General Pediatrics and Adolescent Medicine, University Children s Hospital Freiburg, Freiburg, Germany
    Am J Hum Genet 78:401-9. 2006
  10. doi request reprint The molecular basis of aminoacylase 1 deficiency
    Anke Sommer
    Labor für Klinische Biochemie and Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Biochim Biophys Acta 1812:685-90. 2011

Collaborators

Detail Information

Publications25

  1. doi request reprint 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase
    Jorn Oliver Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, 79106 Freiburg, Germany
    J Inherit Metab Dis 35:437-42. 2012
    ..Mutation analysis in the ALDH6A1 gene can reveal a cause of 3-hydroxyisobutyric aciduria, which may present with only slightly increased urinary levels of 3-hydroxyisobutyric acid, if a patient is metabolically stable...
  2. doi request reprint L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene
    J O Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, 79106, Freiburg, Germany
    J Inherit Metab Dis 31:S275-9. 2008
    ..None of the mutations was found in the control population, indicating that they are most probably causative. Mutation analysis may improve the quality of diagnosis and prenatal diagnosis of L-2-HGA...
  3. ncbi request reprint 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism
    Jorn Oliver Sass
    Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstrasse 1, Freiburg, Germany
    Mol Genet Metab 93:30-5. 2008
    ..The relatively high prevalence of ACADSB gene mutations in control subjects suggests that MBD deficiency may be more common than previously thought but is not detected because of its usually benign nature...
  4. ncbi request reprint Neurological findings in aminoacylase 1 deficiency
    J O Sass
    Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics and Adolescent Medicine, University Children s Hospital Freiburg, Germany
    Neurology 68:2151-3. 2007
  5. doi request reprint Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia
    Jorn Oliver Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Brain Dev 32:544-9. 2010
    ....
  6. doi request reprint D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)
    Jorn Oliver Sass
    Labor für Klinische Biochemie and Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Germany
    Hum Mutat 31:1280-5. 2010
    ..Our work has revealed mutations in the GLYCTK gene as the cause of D-glycerate kinase deficiency and D-glyceric aciduria and provides a noninvasive approach for further diagnostic workup and research...
  7. doi request reprint Inborn errors of ketogenesis and ketone body utilization
    Jorn Oliver Sass
    Zentrum für Kinder und Jugendmedizin, Labor für Klinische Biochemie und Stoffwechsel, Universitatsklinikum Freiburg, Mathildenstr 1, 79106 Freiburg, Germany
    J Inherit Metab Dis 35:23-8. 2012
    ..If those diseases are considered early and appropriate treatment is initiated without delay, patients with inborn errors of ketone body metabolism often have a good clinical outcome...
  8. ncbi request reprint Tracing the origin of L-2-hydroxyglutaric aciduria in a family
    Jorn Oliver Sass
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, 79106, Freiburg, Germany
    Int J Neurosci 119:2118-23. 2009
    ..The mother of our patient was heterozygous for Ala140Pro, and the father heterozygous for Leu149Arg only. Mutation analysis of a healthy 49-year-old third son of the non-consanguineous parents revealed a normal exon 4...
  9. pmc Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
    Jorn Oliver Sass
    Department of General Pediatrics and Adolescent Medicine, University Children s Hospital Freiburg, Freiburg, Germany
    Am J Hum Genet 78:401-9. 2006
    ..Awareness of this new genetic entity may help both in delineating its clinical significance and in avoiding erroneous diagnoses...
  10. doi request reprint The molecular basis of aminoacylase 1 deficiency
    Anke Sommer
    Labor für Klinische Biochemie and Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Biochim Biophys Acta 1812:685-90. 2011
    ....
  11. doi request reprint Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease
    Sarah Catharina Grünert
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg Hospital, Germany
    Brain Dev 33:432-6. 2011
    ..It remains unclear, if this association is incidental or if the underlying metabolic defect may have predisposed the brain tissue to hyperpyrexia-induced damage...
  12. pmc Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
    Sarah C Grünert
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Orphanet J Rare Dis 8:6. 2013
    ..Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited...
  13. ncbi request reprint 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease
    Jorn Oliver Sass
    Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, D 79106, Freiburg, Germany
    Brain Dev 26:12-4. 2004
    ....
  14. doi request reprint Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria
    Manuela Popek
    Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Clin Chim Acta 411:2087-91. 2010
    ..Both GA1 and IBD deficiency can be detected by expanded newborn screening using tandem-mass spectrometry, if they are considered screening targets...
  15. doi request reprint Expression of aspartoacylase (ASPA) and Canavan disease
    Anke Sommer
    Labor für Klinische Biochemie and Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Gene 505:206-10. 2012
    ..More information of ASPA localization in human organs and detailed characterization of mutations leading to a deficiency of ASPA can contribute to a better understanding of this inborn error of metabolism...
  16. doi request reprint Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype
    Sarah Catharina Grünert
    Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany
    Mol Genet Metab 105:433-7. 2012
    ..As a consequence, clinicians will have to look for GLUT2 mutations even in patients with isolated glucosuria...
  17. ncbi request reprint Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
    Willy Lehnert
    Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, D 79106 Freiburg, Germany
    Med Hypotheses 65:330-3. 2005
    ..3) Glutathione has been found to be decreased in homozygous glutaryl-CoA dehydrogenase-deficient knock-out mice...
  18. pmc Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations
    Sarah C Grünert
    Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany
    Nutr J 12:60. 2013
    ..Subcutaneous microdialysis was evaluated as a tool for monitoring phenylalanine and tyrosine concentrations in PKU patients...
  19. ncbi request reprint New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency
    Jorn Oliver Sass
    Stoffwechsellabor Zentrum für Kinderheilkunde und Jugendmedizin, Universitatsklinikum Freiburg, D 79106 Freiburg, Germany
    Ann Clin Biochem 41:157-9. 2004
    ..Detection of these diseases in selective screening for inborn errors of metabolism is not easy because relevant metabolites are either not routinely determined or are unstable...
  20. ncbi request reprint Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease
    U Tacke
    Department of Paediatric Neurology and Muscle Disease, University Children s Hospital, Freiburg, Germany
    Neuropediatrics 36:252-5. 2005
    ..In the third individual, two homozygous sequence variants were identified, which comprise the known G274R mutation and a novel K213E variant...
  21. ncbi request reprint Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants
    J O Sass
    Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin, Universitatsklinikum Freiburg, D 79106 Freiburg, Germany
    J Inherit Metab Dis 27:741-5. 2004
    ..It is as yet uncertain whether IBD deficiency may cause significant morbidity in affected children and whether treatment is necessary. In view of the limited experience worldwide, careful monitoring of the children is recommended...
  22. doi request reprint L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings
    G Haliloglu
    Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Neuropediatrics 39:119-22. 2008
    ..292C-->T) and in exon 7 (c.887T-->A). Both mutations were present in the homozygous state. Serial MR imaging findings as well as MR spectroscopy imaging is reported in a patient who developed glioblastoma multiforme...
  23. ncbi request reprint The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'
    S Scholl-Burgi
    Department of Pediatrics, Innsbruck Medical University, Anichstrasse 35, A 6020, Innsbruck, Austria
    J Inherit Metab Dis 31:395-8. 2008
    ..The neurological sequelae in PA are therefore unlikely to be related to disturbed glycine metabolism...
  24. ncbi request reprint Propionic acidemia revisited: a workshop report
    J O Sass
    Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin, Universitatsklinikum Freiburg, Mathildenstr 1, D 79196 Freiburg, Germany
    Clin Pediatr (Phila) 43:837-43. 2004
    ....
  25. ncbi request reprint Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online
    S Muro
    Departamento de Biologia Molecular, Centro de Biologia Molecular Severo Ochoa CSIC UAM, Universidad Autonoma de Madrid, Spain
    Hum Mutat 14:89-90. 1999
    ..Expression analysis of all these changes will help us to clarify their structural/functional consequences...