Arginase deficiency

Arginase deficiency, also known as hyperargininemia, is a rare autosomal recessive urea cycle disorder caused by pathogenic variants in the *ARG1* gene Impairment of the arginase 1 enzyme disrupts hepatic nitrogen detoxification, leading to the toxic systemic accumulation of arginine and its metabolites, alongside variable or episodic hyperammonemia Unlike other urea cycle disorders that present catastrophically in the neonatal period, arginase deficiency typically manifests in early childhood w...

Arginase deficiency, also known as hyperargininemia, is a rare autosomal recessive urea cycle disorder caused by pathogenic variants in the *ARG1* gene

Impairment of the arginase 1 enzyme disrupts hepatic nitrogen detoxification, leading to the toxic systemic accumulation of arginine and its metabolites, alongside variable or episodic hyperammonemia

Defining clinical features include progressive lower-limb spasticity or spastic paraplegia, loss of motor milestones and ambulation, developmental delay, cognitive regression, microcephaly, and seizures

Defining clinical features include progressive lower-limb spasticity or spastic paraplegia, loss of motor milestones and ambulation, developmental delay, cognitive regression, microcephaly, and seizures

Defining clinical features include progressive lower-limb spasticity or spastic paraplegia, loss of motor milestones and ambulation, developmental delay, cognitive regression, microcephaly, and seizures