Defective BTD causes biotidinase deficiency

Stable Identifier
R-HSA-3371598
Type
Pathway
Species
Homo sapiens
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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.

Literature References
PubMed ID Title Journal Year
20129807 Clinical issues and frequent questions about biotinidase deficiency

Wolf, B

Mol. Genet. Metab. 2010
22241090 Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"

Wolf, B

Genet. Med. 2012
6883721 Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

Wolf, B, Grier, RE, Allen, RJ, Goodman, SI, Kien, CL

Clin. Chim. Acta 1983
Participants
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Disease
Name Identifier Synonyms
vitamin metabolic disorder 0050718
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