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| Mitochondrial disorders v2.47 | SLC13A3 |
Andžela Lazdāne gene: SLC13A3 was added gene: SLC13A3 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to PMID: 33340416; PMID: 30635937 Phenotypes for gene: SLC13A3 were set to Sodium dicarboxylate cotransporter 3 deficiency; Increased urinary dicarboxylic acids, alpha-ketoglutarate, fumarate, N-acetylaspartate; Encephalopathy; Ataxia Penetrance for gene: SLC13A3 were set to Complete Review for gene: SLC13A3 was set to GREEN Added comment: Based on the literature SLC13A3 gene variants cause acute reversible leukoencephalopathy and alpha-ketoglutarate accumulation. Patient had hypotonia, abnormal movements, and dysarthria associated with white matter abnormalities and increased urinary alpha-ketoglutarate and NAA. CSF analysis showed increased lactate. Laboratory studies showed increased urinary excretion of alpha-ketoglutarate, succinate, fumarate, and N-acetylaspartate (NAA). These organic acids were also increased in the cerebrospinal fluid (CSF). The SLC13A3 gene is included an international classification of inherited metabolic disorders (ICIMD), Disorders of the Krebs cycle. Sources: Literature |
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