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bn:03350001n
Noun Concept
Categories: All articles with vague or ambiguous time, Rare diseases, Amino acid metabolism disorders, Vitamin, coenzyme, and cofactor metabolism disorders, Autosomal recessive disorders
EN
methylmalonic acidemia  Defect in synthesis of adenosylcobalamin  METHYLMALONIC ACIDEMIA, cblA TYPE  METHYLMALONIC ACIDEMIA, cblB TYPE  Methylmalonic acidemia with homocystinuria
EN
Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. Wikipedia
Definitions
Relations
Sources
EN
Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. Wikipedia
An autosomal genetic disorder Wikipedia Disambiguation
Organic acidemia that involves an accumulation of methylmalonic acid in the blood Wikidata
IS A
organic acidemia
HAS KIND
methylmalonyl-CoA mutase deficiency
HEALTH SPECIALTY
endocrinology
Wikipedia
EN
methylmalonic acidemia
Wikidata
EN
methylmalonic acidemia
Wikipedia Redirections
EN
Defect in synthesis of adenosylcobalamin, Methylmalonic acidemia with homocystinuria, methylmalonic aciduria, Methylmalonic aciduria microcephaly cataract, Methylmalonicacidemia with homocystinuria, cbl D, Methylmalonicaciduria, vitamin B12 unresponsive, mut-0, Methylmalonicaciduria with homocystinuria, cbl F, Vitamin B12 responsive methylmalonic acidemia, cbl A, Vitamin B12 responsive methylmalonicaciduria
Wikidata Alias
EN
METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, methylmalonic aciduria mut type, methylmalonic aciduria type cblA, methylmalonic aciduria type cblB, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency

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