BTD

Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family.

• Secreted
• Extracellular space

Biotinidase, Biotinase, BTD

• entrezGene:686
• omim:609019
• swissprot:P43251

Proteins

Oncology

61133Da