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Summary
DIMETHYLGLYCINURIA
DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, DMGDH DEFICIENCY
605850
OMIM = Online Medalian Inheritance of Men
243343
5q14.1
  • no specific treatment
very rare
autosomal recessve
This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids [Moolenar et al. 1999]
symptoms
muscle weakness
rotting fish odor
unusual odor
laboratory finding
Creatine kinase increasedserum
MRS, brain, abnormalities -
N,N-Dimethylglycine increasedserum
N,N-Dimethylglycine0.000.00 increasedurinenewborn
Literature
Krause KHet al.Excretion of organic acids associated with biotin deficieny in chronic anticonvulsant therapyInt J Vitam Nutr Res540217-2221984
Gr+€newald SHinrichs F, Wendel UPregnancy in a women with maple sirup urine diseaseJ Inherit Metab Dis21289-941998
Damen Get al.Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and IcJ Pediatr Gastroenterol Nutr383282-2872004
Sun Let al.Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasiaJ Clin Endocrinol Metab9074371-43752005
Dionisi-Vici Cet al.Intravenous immune globulin in lysinuric protein intoleranceJ Inherit Metab Dis21095-1021998