| Disease ID | Source | Name | Description |
| 253260 | OMIM | Biotinidase deficiency (BTD deficiency) | A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. The disease is caused by variants affecting the gene represented in this entry. |