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Summary
DIMETHYLGLYCINURIA (DMGDHD)
DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, DMGDH DEFICIENCY
605850
OMIM = Online Medalian Inheritance of Men
243343
5q14.1
  • no specific treatment
very rare
autosomal recessve
mutation in the DMGDH
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
onset, childhood
rotting fish odor
unusual odor / odour
laboratory finding
Creatine kinase increasedserum
MRS, brain, abnormalities -
Butyrylglycine increasedserum
Butyrylglycine0.000.00 increasedurinenewborn
N,N-Dimethylglycine300.00600.00 mmol/mol creatinineurine
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