Biotinidase deficiency;
BTD deficiency;
Late-onset multiple carboxylase deficiency

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.

Inherited metabolic disease

BTD [HSA:686] [KO:K01435]

Biotin [DR:D00029]

Early-onset multiple carboxylase deficiency is described in H00180. [DS:H00180]

PMID:21696988

Wolf B

The neurology of biotinidase deficiency.

Mol Genet Metab 104:27-34 (2011)