Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency

Clinica Chimica Acta; International Journal of Clinical Chemistry
M FontaineJ Vamecq

Abstract

Here we report on a patient with severe ("non-classic") carnitine palmitoyltransferase type II (CPT II) deficiency. Hypoglycemia prompted by an infectious episode and associated with non-ketotic dicarboxylic aciduria orientated diagnosis towards beta-oxidation deficiency disorders. Blood carnitine levels revealed a secondary carnitine deficiency that was responsive to oral L-carnitine supplementation. Blood acylcarnitine profiles were abnormal and included acetyl (C2:0), butyryl/isobutyryl (C4:0), isovaleryl/2-methylbutyryl (C5:0), hexanoyl (C6:0), myristoyl (C14:0), palmitoyl (C16:0), hexadecenoyl (C16:1), oleyl (C18:1) and stearoyl (C18:0) carnitine. In urine, excess excretion of dicarboxylylcarnitines, mainly dodecanedioylcarnitine, was noticed. Upon carnitine supplementation, C8 to C12 fatty acylcarnitines, with decanoylcarnitine as well as C10 to C14 dicarboxylylcarnitines being prominent, were observed in urine. Biochemical measurements disclosed a severe reduction of mitochondrial CPT II activity (7% of normal values). Correlations of metabolic findings in the patient and physiological roles of CPT II are briefly discussed.

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Citations

Apr 15, 2004·Chemistry and Physics of Lipids·David W Johnson
Mar 29, 2000·Pediatric Neurology·B T Darras, N R Friedman
Feb 5, 2000·Neurologic Clinics·V A Cwik
Sep 3, 2010·Neurological Research·Angelica AnichiniCorrado Angelini
Dec 23, 1999·Molecular Genetics and Metabolism·J P BonnefontL Thuillier
Dec 13, 2018·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Sara ViolanteSander M Houten
Nov 15, 2003·Laboratory Investigation; a Journal of Technical Methods and Pathology·Ellen SigaukeMichael J Bennett
Feb 15, 2020·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Sander M HoutenPablo Ranea-Robles
Jul 17, 1999·Journal of Inherited Metabolic Disease·M BrivetJ P Bonnefont

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