methylmalonic acidemia

[autosomal recessive aminoacidopathy characterized by an excess of methylmalonic acid in the blood and urine, with metabolic ketoacidosis, hyperglycinemia, hyperglycinuria and hyperammonemia; results from defects that cause deficiencies of methylmalonyl-CoA mutase. ( CSP )]

UMLS (CSP) C0268583

Disease or Syndrome

Relation/PAR: Amino Acid Metabolism, Inborn Errors
enzyme deficiency

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