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GENATLAS PHENOTYPE

last update : 20-01-2016

Symbol	CPS1D
Location	2q34
Name	carbamoyl phosphate synthetase I deficiency
Corresponding gene	CPS1
Main clinical features	inborn error of metabolism of the urea cycle which causes hyperammonemia urea cycle disorder characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis a lethal neonatal type with neonatal distress and hyperammonemia, and early death a less severe, delayed-onset type also caused secondarily by lack of its allosteric activator NBAS ( PMID: 20800523))
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Remark(s)