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Gene: SLC16A1

Green List (high evidence)

Monocarboxylate transporter deficiency - Childhood onset, metabolic disorder. 3 individuals with bi-allelic and 5 with mono-allelic variants reported as at May 2022. Individuals with bi-allelic variants had more severe presentation, including mild ID but unclear if this is primary or secondary to episodes of ketoacidosis.
Patients experience ketoacidotic episodes, preceded by poor feeding and vomiting. Early initiation of treatment can prevent these episodes.
PMID:36082648 report additional heterozygous patient with c.303T > G (p.Ile101Met) missense mutation experiencing vomiting and ketoacidosis episodes.
PMID: 35729663 report additional homozygous female patient - episodes of severe acidosis, vomiting. MRI revealed brain anomalies. Authors suggest based on patient presentation that condition may also involve episodes of lactic acidosis, neuromotor delay and neuroimaging anomalies of the subcortical white matter and basal ganglia or agenesis of the corpus callosum.

Created: 9 Dec 2024, 1:57 a.m. | Last Modified: 9 Dec 2024, 1:57 a.m.

Panel Version: 1.633

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Monocarboxylate transporter 1 deficiency MIM#616095

Publications

• 25390740
• 20301549
• 36082648
• 35729663