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Methylmalonic aciduria presenting in an adult

✍ Scribed by M. Gerhardt; E. M. Burke; I. K. Brandt; D. W. Crabb


Book ID
105314553
Publisher
Springer
Year
1991
Tongue
English
Weight
167 KB
Volume
14
Category
Article
ISSN
0141-8955

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Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B 12 derivative, adenosylcobalamin (AdoCbl) as a cofactor. To date, 23 mutations hav