BabyScreen+ newborn screening

Gene: ARG1

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininaemia MIM#207800

Green List (high evidence)

Arginase deficiency is a urea cycle disorder, in which untreated individuals is 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.

from Treatable-ID:

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: 26 Sep 2022, 7:35 a.m. | Last Modified: 26 Sep 2022, 7:35 a.m.

Panel Version: 0.205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal