leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

Findings

No curated finding names leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 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

Juvenile onset · Childhood 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

• acute disease
• hereditary disease

Resolves to: leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

Also called

acute reversible leukoencephalopathy due to SLC13A3 deficiencyacute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiencyacute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate