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multiple carboxylase deficiency

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.
Disease Ontology Description An amino acid metabolic disorder that involves failures of carboxylation enzymes.
Mondo Term and Equivalent IDs
MONDO:0015454:  multiple carboxylase deficiency
GARD:0003824: 
ICD10:D81.819: 
MESH:D009100: 
Orphanet:148: 
UMLS:C0026755: