KEGG   DISEASE: H01182Help
Entry
H01182                      Disease                                

Name
Biotinidase deficiency;
BTD deficiency;
Late-onset multiple carboxylase deficiency
Description
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.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Biotin metabolism
Vitamin digestion and absorption
Gene
BTD [HSA:686] [KO:K01435]
Drug
Biotin [DR:D00029]
Comment
Early-onset multiple carboxylase deficiency is described in H00180. [DS:H00180]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Wolf B
  Title
The neurology of biotinidase deficiency.
  Journal
Mol Genet Metab 104:27-34 (2011)

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