Carbamoyl phosphate synthetase deficiency

Carbamoyl phosphate synthetase deficiency (commonly carbamoyl phosphate synthetase I deficiency) is a rare autosomal recessive inborn error of metabolism affecting the first rate-limiting step of the hepatic urea cycle

Carbamoyl phosphate synthetase deficiency (commonly carbamoyl phosphate synthetase I deficiency) is a rare autosomal recessive inborn error of metabolism affecting the first rate-limiting step of the hepatic urea cycle Caused by mutations in the *CPS1* gene, the defect prevents the incorporation of waste nitrogen into the urea cycle, leading to severe hyperammonemia

Carbamoyl phosphate synthetase deficiency (commonly carbamoyl phosphate synthetase I deficiency) is a rare autosomal recessive inborn error of metabolism affecting the first rate-limiting step of the hepatic urea cycle

Caused by mutations in the *CPS1* gene, the defect prevents the incorporation of waste nitrogen into the urea cycle, leading to severe hyperammonemia The central nervous system is predominantly impacted, with complete deficiency manifesting in neonates within days of birth as acute hyperammonemic encephalopathy marked by lethargy, vomiting, seizures, hypothermia, cerebral edema, and coma Partial deficiency may present later in childhood or adulthood with episodic confusion, ataxia, intellectual ...

The central nervous system is predominantly impacted, with complete deficiency manifesting in neonates within days of birth as acute hyperammonemic encephalopathy marked by lethargy, vomiting, seizures, hypothermia, cerebral edema, and coma Partial deficiency may present later in childhood or adulthood with episodic confusion, ataxia, intellectual disability, and behavior changes frequently triggered by catabolic stress or high protein intake

The central nervous system is predominantly impacted, with complete deficiency manifesting in neonates within days of birth as acute hyperammonemic encephalopathy marked by lethargy, vomiting, seizures, hypothermia, cerebral edema, and coma Partial deficiency may present later in childhood or adulthood with episodic confusion, ataxia, intellectual disability, and behavior changes frequently triggered by catabolic stress or high protein intake

The central nervous system is predominantly impacted, with complete deficiency manifesting in neonates within days of birth as acute hyperammonemic encephalopathy marked by lethargy, vomiting, seizures, hypothermia, cerebral edema, and coma