Monocarboxylate Transporter-1 Deficiency Results in Severe Metabolic Acidosis with Ketogenic Diet in Early...

Monocarboxylate Transporter-1 Deficiency Results in Severe Metabolic Acidosis with Ketogenic Diet in Early..., Ketogenic diet (KD) is commonly used in drug-resistant epilepsy, but is contraindicated in some metabolic disorders (i.e. defects in carnitine pathways and beta-oxidation).1 SLC16A1 (OMIM 600682) encodes monocarboxylate transporter-1 (MCT1), involved in transmembrane transport of ketone bodies, lactate and pyruvate., Ketogenic diet (KD) is commonly used in drug-resistant epilepsy, but is contraindicated in some metabolic disorders (i.e. defects in carnitine pathways and beta-oxidation).1 SLC16A1 (OMIM 600682) encodes monocarboxylate transporter-1 (MCT1), involved in transmembrane transport of ketone bodies, lactate and pyruvate. Individuals with loss-of-function SLC16A1 variants are prone to recurrent metabolic ketoacidosis.2 Here, we present a girl with epilepsy and a likely pathogenic SLC16A1 variant who developed severe metabolic acidosis on KD; MCT1 haploinsufficiency may explain her metabolic response and her epilepsy., admin,