Prepair 1000+

Gene: ARG1

Green List (high evidence)

HGNC approved symbol/name: ARG1
Is the phenotype(s) severe and onset <18yo ? Yes

Inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine. Characterised by hyperammonemia, encephalopathy, and respiratory alkalosis. Untreated individuals are characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of linear growth at age one to three years, followed by development of spasticity, plateauing of cognitive development, and subsequent loss of developmental milestones. If untreated, arginase deficiency usually progresses to severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe intellectual disability. Seizures are common and are usually controlled easily.

Treatments available:
Level of Evidence: 2b
Sodium phenylbutyrate, glycerol phenylbutyrate, sodium benzoate: improves behavioural/psychiatric disturbance(s), prevents acute metabolic decompensation, prevents, halts, or slows clinical deterioration, improves neurological manifestations (incl. neuro-imaging)
Level of Evidence: 2b, effect on growth 4
Protein defined diet, arginine or citrulline: improves behavioural/psychiatric disturbance(s); prevents acute metabolic decompensation; prevents, halts, or slows clinical deterioration; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations
Level of Evidence: 4
Liver transplantation: improves psychomotor/cognitive development/IQ; improves behavioural/psychiatric disturbance(s), prevents, halts, or slows clinical deterioration, improves neurological manifestations (incl. neuro-imaging)

Created: 24 Jul 2024, 6:25 a.m. | Last Modified: 24 Jul 2024, 6:25 a.m.

Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininemia MIM# 207800

Publications

• PMID: 26467175
• 2365823
• 1598908
• 29726057