Multiple carboxylase deficiency

Orpha code: 148OMIM code:

Definicja

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
Klasyfikacja

Clinical group

Synonimy
MCD
MCD
Kod ORPHA
148
Kod OMIM
-
Kod ICD10
E53.8
Kod ICD11
-

No additional description.

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