| Disease ID | Source | Name | Description |
| 253270 | OMIM | Holocarboxylase synthetase deficiency (HLCS deficiency) | A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. The disease is caused by variants affecting the gene represented in this entry. |