Holocarboxylase Synthetase Deficiency [mnohočetná karboxylázová deficience, novorozenecká forma]
- Terms
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deficit synthetasy holokarboxylas
deficit synthetázy holokarboxyláz
mnohočetná karboxylasová deficience infantilní
mnohočetná karboxylasová deficience novorozenecká
mnohočetný karboxylázový deficit, novorozenecká forma
synthetasa holokarboxylas - nedostatek
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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
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
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology