Biotinidase Deficiency [deficit biotinidázy]

topical
2
Terms

biotinidasa - nedostatek
mnohočetná karboxylasová deficience s pozdním nástupem
mnohočetná karboxylázová deficience s pozdním nástupem
nedostatek biotinidázy

 

BTD Deficiency
Carboxylase Deficiency, Multiple, Late-Onset
Deficiency, Biotinidase
Deficiency, Multiple Carboxylase, Late-Onset
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Late-Onset Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Late-Onset

Persistent link   https://www.medvik.cz/link/D028921
Definition

The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

DUI
D028921 MeSH Browser
CUI
M0381891
Previous indexing
Amidohydrolases/deficiency (1983-2001)
History note
2002
Public note
2002

Biotin deficiency Disease MeSH Browser