Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.

Abstract

Carnitine is a quaternary amine essential for the transport of long-chain free fatty acids (LCFFA) across the inner mitochondial membrane where they undergo #-oxidation providing the major source of energy to the Krebs cycle and the respiratory chain.'Most of the carnitine required daily is synthesised in the liver and is transported primarily to muscles where LCFFA are the sole source of fuel. Carnitine deficiency states were traditionally classified into either myopathic or systemic forms. The myopathic form is characterised by proximal and truncal muscle