You are using an outdated browser. Please upgrade your browser to improve your experience.

biotinidase deficiency

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
Uniprot Description A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.
Disease Ontology Description A multiple carboxylase deficiency that involves a deficiency in biotinidase.
Mondo Term and Equivalent IDs
MONDO:0009665:  biotinidase deficiency
GARD:0000894: 
ICD10:D81.810: 
MESH:D028921: 
NCIT:C84598: 
Orphanet:79241: 
SCTID:8808004: 
UMLS:C0220754: 
UMLS:CN043572: