nemoc z nedostatku karbamoylfosfátsyntetázy [Carbamoyl-Phosphate Synthase I Deficiency Disease]
- Termíny
-
deficit karbamoylfosfátsynthasy I
deficit karbamylfosfátsynthetasy I
hyperamonémie z nedostatku karbamoylfosfátsyntetázy I
hyperamonémie z nedostatku karbamoylfosfátsynthasy I
nedostatek karbamoylfosfátsynthasy I
nedostatek karbamylfosfátsynthetasy I
nemoc v důsledku nedostatku karbamoylfosfátsynthasy I
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Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease
Carbamoyl Phosphate Synthase 1 Deficiency
Carbamoyl Phosphate Synthetase I Deficiency
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Carbamoyl-Phosphate Synthase 1 Deficiency Disease
Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)
Carbamoyl-Phosphate Synthetase I Deficiency Disease
Carbamoylphosphate Synthetase 1 Deficiency Disease -
Carbamoylphosphate Synthetase I Deficiency Disease
Carbamyl Phosphate Synthetase (CPS) Deficiency
Carbamyl Phosphate Synthetase Deficiency Disease
Carbamyl-Phosphate Synthetase 1 Deficiency Disease
Carbamyl-Phosphate Synthetase I Deficiency Disease
CPS 1 Deficiency
CPS I Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Vrozená porucha metabolismu močovinového cyklu s autozomálně recesivní dědičností (genový defekt 2p24.3-q31). V popředí je těžká hyperamonemie, zvýšen je také glutamin, hladina močoviny v krvi je snížená. Je nutná redukce bílkovin v potravě. (cit. Velký lékařský slovník online, 2015 http://lekarske.slovniky.cz/ )
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
- Anotace
- consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic
- DUI
- D020165 MeSH Prohlížeč
- CUI
- M0328185
- Předchozí užití
- Amino Acid Metabolism, Inborn Errors (1975-1999); Carbamoyl-Phosphate Synthase (Ammonia)/deficiency (1989-1999); Metabolism, Inborn Errors (1970-1974)
- Historická pozn.
- 2000
- Veřejná pozn.
- 2000
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