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Summary
METHYLMALONIC ACIDURIA, ATYPICAL
unknown
case report (MMA, atypical) 2 siblings with atypical methylmalonic aciduria and progressive encephalopathy and normal activity of methylmalonyl-CoA mutase
symptoms
athetosis
cataract
dystonia
encephalopathy
failure to thrive
growth retardation
hypertonia, spasticity
mental retardation
microcephaly
myopathy
onset, infant
ophthalmoplegia
peripheral neuropathy
laboratory finding
Methylmalonic acid 0.0079.00increasedurine
MRI, brain, abnormalities -
Literature
Saudubray JMCharpentier CClinical phenotypes: diagnosis/algorythmsThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10327-4001995
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