Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency.
Clin Chim Acta
; 273(2): 161-70, 1998 May 25.
Article
em En
| MEDLINE
| ID: mdl-9657346
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 (C20), butyryl/isobutyryl (C40), isovaleryl/2-methylbutyryl (C50), hexanoyl (C60), myristoyl (C140), palmitoyl (C160), hexadecenoyl (C161), oleyl (C181) and stearoyl (C180) 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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Carnitina O-Palmitoiltransferase
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Clin Chim Acta
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
França