AGAT deficiency

Findings

No curated finding names AGAT deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Infantile onset

HPO, annotations 2026-09-02

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.

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.

Where it sits

A kind of

• cerebral creatine deficiency syndrome
• creatine biosynthetic process disease

Resolves to: AGAT deficiency

Also called

arginine:glycine amidinotransferase deficiencyCCDS3cerebral creatine deficiency syndrome 3cerebral creatine deficiency syndrome type 3creatine deficiency syndrome due to AGAT deficiencydisorder of glycine amidinotransferase activityGATM deficiencyglycine amidinotransferase activity diseaseL-arginine:glycine amidinotransferase deficiency