KEGG   DISEASE: Biotinidase deficiency
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of cofactor/vitamin metabolism
   H01182  Biotinidase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01182  Biotinidase deficiency
Pathway
hsa00780  Biotin metabolism
hsa04977  Vitamin digestion and absorption
Gene
BTD [HSA:686] [KO:K01435]
Comment
Early-onset multiple carboxylase deficiency is described in H00180. [DS:H00180]
Other DBs
ICD-11: 5C50.E0
ICD-10: E53.8
MeSH: D028921
OMIM: 253260
Reference
  Authors
Wolf B
  Title
The neurology of biotinidase deficiency.
  Journal
Mol Genet Metab 104:27-34 (2011)
DOI:10.1016/j.ymgme.2011.06.001
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