Holocarboxylase Synthetase Deficiency [mnohočetná karboxylázová deficience, novorozenecká forma]

topical
Terms

deficit synthetasy holokarboxylas
deficit synthetázy holokarboxyláz
mnohočetná karboxylasová deficience infantilní
mnohočetná karboxylasová deficience novorozenecká
mnohočetný karboxylázový deficit, novorozenecká forma
synthetasa holokarboxylas - nedostatek

 

Carboxylase Deficiency, Multiple, Neonatal Form
Deficiency, Holocarboxylase Synthetase
Deficiency, Multiple Carboxylase, Neonatal Form
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Early-Onset Combined Carboxylase Deficiency
HLCS Deficiency
Infantile Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency, Early Onset
Multiple Carboxylase Deficiency, Neonatal Form

Persistent link   https://www.medvik.cz/link/D028922
Definition

The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).

DUI
D028922 MeSH Browser
CUI
M0381890
History note
2002
Public note
2002