| H01182 | |
| H number | H01182 |
| Name | Biotinidase deficiency; BTD deficiency; Late-onset multiple carboxylase deficiency |
| 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | BTD [HSA:686] [KO:K01435] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Early-onset multiple carboxylase deficiency is described in H00180. [DS:H00180] |
| Other DBs | ICD-11: 5C50.E0 ICD-10: E53.8 MeSH: D028921 OMIM: 253260 |
| Reference | PMID:21696988 AUTHORS Wolf B TITLE The neurology of biotinidase deficiency. JOURNAL Mol Genet Metab 104:27-34 (2011) DOI:10.1016/j.ymgme.2011.06.001 |