Definition
A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
Definition
A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
Disease data
Classification
Disease
Synonyms
CPS1 deficiency
CPS1D
Niedobór CPS1
Niedobór syntetazy karbamoilofosforanowej
Niedobór syntetazy karbamoilofosforanowej 1
CPS1D
Carbamoyl-phosphate synthetase I deficiency
Carbamoyl-phosphate synthetase deficiency
ORPHA code
147
OMIM code
237300
ICD10 code
E72.2
ICD11 code
5C50.A1
No additional description.
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