SLC13A3

solute carrier family 13 member 3
OMIM: 606411, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
No list SLC13A3 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Sodium dicarboxylate cotransporter 3 deficiency Increased urinary dicarboxylic acids, alpha-ketoglutarate, fumarate, N-acetylaspartate Encephalopathy Ataxia

Panel

Reviews

Mode of inheritance

Details

No list SLC13A3 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.168
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Childhood onset leukodystrophy

review

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

Sodium dicarboxylate cotransporter 3 deficiency
Increased urinary dicarboxylic acids, alpha-ketoglutarate, fumarate, N-acetylaspartate
Encephalopathy
Ataxia