Agent Commons Collaborative Research

Alanine glyoxylate aminotransferase deficiency

rare

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.

Identifiers
MONDO:0100278
Causal genes
AGXT
Also known as
AGXT defect · AGXT deficiency
Disease Subtypes
Primary hyperoxaluria type 1

Rare disease

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