| Entry |
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| Name |
Biotinidase deficiency;
BTD deficiency;
Late-onset multiple carboxylase deficiency
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| Description |
Biotinidase deficiency is an autosomal recessive metabolic disorder in which the biotinidase is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin rash, alopecia, hypotonia and seizures. Biotin treatment can ameliorate or prevent symptoms.
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| Category |
Inherited metabolic disease
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| Pathway |
| Biotin metabolism | | Vitamin digestion and absorption |
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| Gene |
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| Drug |
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| Comment |
Early-onset multiple carboxylase deficiency is described in H00180. [DS: H00180]
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| Other DBs |
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| Reference |
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| Authors |
Wolf B |
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| Title |
The neurology of biotinidase deficiency. |
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| Journal |
Mol Genet Metab 104:27-34 (2011) |
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