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Recent Advances in the Inherited Methylmalonic Acidemias
Author(s) -
MAHONEY M. J.,
BICK D.
Publication year - 1987
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1987.tb10551.x
Subject(s) - cobalamin , methylmalonic acidemia , mutase , medicine , catabolism , vitamin b12 , biochemistry , enzyme , cofactor , endocrinology , metabolism , biology
Methylmalonic acidemia results from decreased activity of methylalonyl‐CoA mutase, an enzyme required for the catabolism of four amino acids. A cobalamin (vitamin B 12 ) compound is required as coenzyme. Several inherited mutations of the mutase apoenzyme or of cobalamin coenzyme synthesis have been identified. Clinical disease is most commonly recognized as a severe protein intolerance state although a wide range of symptoms has been appreciated. Current therapy emphasizes strict dietary management and use of vitamin B 12 in cobalamin responsive patients.