| 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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| Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of cofactor/vitamin metabolism
H01182 Biotinidase deficiency
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H01182 Biotinidase deficiency
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| Pathway |
| hsa04977 | Vitamin digestion and absorption |
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| Gene |
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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 |
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| LinkDB |
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