Renal Tubular Acidosis in Carnitine Palmitoyltransferase Type 1 Deficiency
- 2 July 1992
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 327 (1) , 24-27
- https://doi.org/10.1056/nejm199207023270105
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.2Keywords
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