Patients present with -often profound, potentially lethal - ketoacidosis, which is presumably triggered by certain genetic and environmental factors and may occur repeatedly. Some affected individuals (in particular homozygotes) may also present with developmental impairment/intellectual disability. However, as only about 20 individuals with MCT1 deficiency are known, the data base is rather limited. Mostly considered to follow an autosomal-recessive trait of inheritance, in view of the symptomatic heterozygotes an autosomal-dominant trait is also possible for this disorder of ketone body transport.
SLC16A1