Renal Tubular Acidosis in Carnitine Palmitoyltransferase Type 1 Deficiency

Zipora C. Falik-Borenstein, Stanley C. Jordan, Jean Marie Saudubray, Michele Brivet, France Demaugre, John Edmond, Stephen D. Cederbaum

Research output: Contribution to journalArticlepeer-review

46 Scopus citations


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…

Original languageEnglish
Pages (from-to)24-27
Number of pages4
JournalNew England Journal of Medicine
Issue number1
StatePublished - 2 Jul 1992
Externally publishedYes


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