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methylmalonic aciduria

   Also found in: Wikipedia 0.01 sec.
meth·yl·ma·lo·nic aciduria (mthl-m-lnk, -lnik)
n.
A metabolic disorder resulting from an enzyme deficiency and characterized by the presence of excessive amounts of methylmalonic acid in the urine; it can be congenital or acquired because of a vitamin B12 deficiency.


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Classical' Organic Acidurias, Propionic Aciduria, Methylmalonic Aciduria and Isovaleric Aciduria: Long-Term Outcome and Effects of Expanded Newborn Screening Using Tandem Mass Spectrometry, 29 J.
Decreased activities of ubiquinol:ferricytochrome C oxidoreductase (complex III) and ferrocytochrome C:oxygen oxidoreductase (complex IV) in liver mitochondria from rats with hydroxycobalamin[C-lactam]-induced methylmalonic aciduria.
A syndrome of methylmalonic aciduria, homocysteine, megaloblastic anemia and neurologic abnormalities in a vitamin B12 deficient breast-fed infant of a strict vegetarian.
 
 
 
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