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Defective BTD causes biotidinase deficiency

Stable Identifier
R-HSA-3371598
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

BTD deficiency is an autosomal recessive disorder in which the body is unable to recycle and reuse biotin (Btn). This results in a secondary Btn deficiency that leads to juvenile-onset multiple carboxylase deficiency (MIM:253260) (Wolf 2012, Wolf et al. 1983). Patients present with neurological and cutaneous symptoms, including seizures, hypotonia, skin rash, and alopecia, usually between the second and fifth months of life (Wolf 2010). Children with profound BTD deficiency are treated with pharmacological doses of biotin (5-20 mg daily). Neonatal screening for BTD deficiency is performed in most states of the United States and many other countries.

Participants
Participant Of
Disease
Name Identifier Synonyms
vitamin metabolic disorder 0050718