Genotype and Clinical Phenotype of Monocarboxylate Transporter 1 Deficiency in Three Palestinian Children: Report of Two Novel Variants in the SLC16A1 Gene.

Abstract excerpt

Monocarboxylate transporter 1 (MCT1) deficiency (OMIM# 616095), caused by variants in the SLC16A1 gene (OMIM# 600682), is responsible for the transport of monocarboxylates across the plasma membrane. This condition is recognized as a rare genetic cause of impaired ketone body utilization in extrahepatic tissues, resulting in recurrent ketoacidosis triggered by fasting and infection. To date, only 17 patients with...

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