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Defective BTD causes biotidinase deficiency
Stable Identifier
R-HSA-3371598
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in biotin (Btn) metabolism (Homo sapiens)
Defective BTD causes biotidinase deficiency (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
22241090
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have"
Wolf, B
Genet. Med.
2012
20129807
Clinical issues and frequent questions about biotinidase deficiency
Wolf, B
Mol. Genet. Metab.
2010
6883721
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency
Wolf, B
,
Allen, RJ
,
Goodman, SI
,
Grier, RE
,
Kien, CL
Clin. Chim. Acta
1983
Participants
Events
Defective extracellular BTD does not hydrolyse BCTN
(Homo sapiens)
Defective mitochondrial BTD does not hydrolyse BCTN
(Homo sapiens)
Participates
as an event of
Defects in biotin (Btn) metabolism (Homo sapiens)
Disease
Name
Identifier
Synonyms
vitamin metabolic disorder
DOID:0050718
Authored
Jassal, B (2013-05-13)
Reviewed
Polyak, SW (2013-08-15)
Created
Jassal, B (2013-05-13)
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