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Summary
SARCOSINEMIA
SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY HYPERSARCOSINEMIA
268900
OMIM = Online Medalian Inheritance of Men
3129
9q34.2
  • no specific treatment
rare (1:350000, ~50 cases)
autosomal recessive
mutation in the SARDH gene
Sarcosinemia is caused by a defect in the conversion of sarcosine to glycine, it is most probably a benigne disorder Sarcosinemia also with Glutaric acidemia II and Folate deficiency (goats milk feeding!)
symptoms
Amino acids, plasma
Amino acids, urine
ataxia
blindness, visual loss, visual impairment
cardiomyopathy
cranial synostosis
failure to thrive
feeding difficulties, poor feeding
growth retardation, poor growth
mental retardation
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
vomiting
laboratory finding
Sarcosine50.00760.000.00625.00-Ámol/lplasma
Sarcosine240.005080.000.0056.00mmol/mol creatinineurine
Literature
Walterfang M,et al.The neuropsychiatry of inborn errors of metabolismJ Inherit Metab Dis364687-7022013
Bonioli Eet al.Fumarate hydratase deficiencyJ Inherit Metab Dis214435-4361998
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
Sewell ACet al.Mitochondrial acetoacetyl-CoA thiolase (+ƒ-ketothiolase) deficiency and pregnancyJ Inherit Metab Dis214441-4421998
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Mock DMet al.Disturbances in biotin metabolism in children undergoing long-term anticonvulsant therapyJ Pediatr Gastroenterol Nutr263245-2501998
Kure Set al.A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentrationJ Inherit Metab Dis214431-4321998