Renal Tubular Acidosis in Carnitine Palmitoyltransferase Type 1 Deficiency

Abstract

THE importance of the normal metabolism of long-chain fatty acids has been emphasized by the increasing number of reports of the association of defects in this pathway with serious and even fatal illness.1 , 2 Surprisingly, obvious clinical symptoms are intermittent and associated with intercurrent illness and especially with the need for gluconeogenesis.2 Carnitine palmitoyltransferase catalyzes the transport of long-chain fatty acids into mitochondria, which is the first obligatory step in the oxidation of fatty acids. Biochemical and immunologic analyses and studies of patients with defective fatty-acid oxidation have localized carnitine palmitoyltransferase type 1 to the inner part of the outer mitochondrial . . .