arginase deficiency
Findings
No curated finding names arginase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Definition from the Mondo Disease Ontology (MONDO:0008814), read 2026-09-29. CC BY 4.0.
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- CholestasisHPOHP:0001396
- 1 of 1 reported patient
- Episodic vomitingHPOHP:0002572
- 1 of 1 reported patient
- Frequent fallsHPOHP:0002359
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HyperargininemiaHPOHP:0500153
- 12 of 12 reported patients
- Micronodular cirrhosisHPOHP:0001413
Show the remaining 9
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Frequent (30% to 79% of cases)
- HyperammonemiaHPOHP:0001987
- Frequent (30% to 79% of cases)
- Progressive spastic quadriplegiaHPOHP:0002478
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARG1HGNC:663
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: arginase deficiency
- Also called
- Arginase-1 Deficiencyargininemiahyperargininemia