TY - JOUR
T1 - Renal Tubular Acidosis in Carnitine Palmitoyltransferase Type 1 Deficiency
AU - Falik-Borenstein, Zipora C.
AU - Jordan, Stanley C.
AU - Saudubray, Jean Marie
AU - Brivet, Michele
AU - Demaugre, France
AU - Edmond, John
AU - Cederbaum, Stephen D.
PY - 1992/7/2
Y1 - 1992/7/2
N2 - 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…
AB - 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…
UR - http://www.scopus.com/inward/record.url?scp=0026689498&partnerID=8YFLogxK
U2 - 10.1056/NEJM199207023270105
DO - 10.1056/NEJM199207023270105
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C2 - 1598098
AN - SCOPUS:0026689498
SN - 0028-4793
VL - 327
SP - 24
EP - 27
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 1
ER -