Ornithine Carbamoyltransferase Deficiency Disease [nemoc z nedostatku ornithinkarbamoyltransferázy]
- Terms
-
deficit ornitintranskarbamoylázy
deficit OTC
ornithinkarbamoyltransferasa - nedostatek
ornithintranskarbamylasa - nedostatek
-
Deficiency Disease, Ornithine Carbamoyltransferase
Deficiency Disease, Ornithine Transcarbamylase
Ornithine Carbamoyltransferase Deficiency
Ornithine Transcarbamylase Deficiency
Ornithine Transcarbamylase Deficiency Disease
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
OTC Deficiency
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
- DUI
- D020163 MeSH Browser
- CUI
- M0328321
- Previous indexing
- Ornithine Carbamoyltransferase/deficiency (1966-1999)
- History note
- 2000
- Public note
- 2000
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 2
- DI
- diagnosis 8
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology 1
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics 7
- HI
- history
- IM
- immunology
- ME
- metabolism 2
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology 2
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery 1
- TH
- therapy 3
- UR
- urine
- VE
- veterinary
- VI
- virology