Multiple carboxylase deficiency

Orpha code: 148OMIM code:

Definition

A group of 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. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.

Disease data
Classification

Clinical group

Synonyms
MCD
MCD
ORPHA code
148
OMIM code
-
ICD10 code
E53.8
ICD11 code
-

No additional description.

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