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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 (<2 SD for age)
myopathy
onset, infancy
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