Multiple carboxylase deficiency (Q63447): Difference between revisions
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A deficiência múltipla de carboxilases é um termo usado para descrever erros inatos do metabolismo da biotina caracterizados por dimiuição de atividade de enzimas dependentes de biotina, resultando em um amplo espectro de sintomas, incluindo dificuldade de alimentação, dificuldades respiratórias, letargia, convulsões, erupção cutânea, alopecia, e atraso no desenvolvimento. Existem duas formas clínicas principais, dependendo de sua causa subjacente: deficiência de biotinidase e e a deficiência da holocarboxilase sintetase | |||
| description / en | description / en | ||
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterised 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. There are two major clinical forms of MCD depending on their underlying cause: biotinidase deficiency and holocarboxylase synthetase deficiency. | |||
Revision as of 10:56, 14 August 2026
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterised 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. There are two major clinical forms of MCD depending on their underlying cause: biotinidase deficiency and holocarboxylase synthetase deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1133091451 |
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| English | Multiple carboxylase deficiency |
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterised 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. There are two major clinical forms of MCD depending on their underlying cause: biotinidase deficiency and holocarboxylase synthetase deficiency. |
