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methylmalonic aciduria
(redirected from Methylmalonic acidemia)

   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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METACHROMATIC LEUKODYSTROPHY See: Leukodystrophy; Tay-Sachs Disease METAPHYSEAL DYSOSTOSIS, TYPE B IV See: Shwachman Syndrome METHYLMALONIC ACIDEMIA See: Acidemia, Organic MICROCEPHALY FACES-The National Craniofacial Association PO Box 11082 Chattanooga, TN 37401 (800) 332-2373 (423) 266-1632 (423) 267-3124 (fax) * Faces@mindspring.
However, upon the birth of a second baby, doctors found that the infant had a rare disease, methylmalonic acidemia, which in fact, had caused the death of the first child.
Diagnosed with methylmalonic acidemia (MMA), a severe metabolic disorder, the baby recovered when treated for a deficiency of camitine, the essential amino acid he was unable to metabolize because of a genetic disorder.
 
 
 
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