glutamate pyruvate transaminase 2 deficiency

Findings

No curated finding names glutamate pyruvate transaminase 2 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 · Progressive

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

• complex hereditary spastic paraplegia

Resolves to: glutamate pyruvate transaminase 2 deficiency

Also called

GPT2 Deficiencymental retardation, autosomal recessive 49mental retardation, autosomal recessive type 49neurodevelopmental disorder with microcephaly and spastic paraplegiapostnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome