Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block : translocase assay in permeabilized fibroblasts

Deficiency of the enzymes of mitochondrial fatty acid oxidation and related carnitine dependent steps have been shown to be one of the causes of the fasting-induced hypoketotic hypoglycemia. We describe here carnitine-acylcarnitine translocase deficiency in a neonate who died eight days after birth....

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Bibliographic Details
Published in:The Journal of clinical investigation 1993-03, Vol.91 (3), p.1247-1252
Main Authors: PANDE, S. V, BRIVET, M, ABDELHAMID SLAMA, DEMAUGRE, F, AUFRANT, C, SAUDUBRAY, J.-M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Carnitine - blood
Carnitine Acyltransferases - deficiency
Carnitine O-Palmitoyltransferase - metabolism
Cell Membrane Permeability
Cells, Cultured
Errors of metabolism
Fatty Acid Desaturases - metabolism
Fatty Acids - metabolism
Fibroblasts - enzymology
Fibroblasts - metabolism
Heart Block - enzymology
Heart Block - genetics
Humans
Hypoglycemia - enzymology
Hypoglycemia - genetics
Infant, Newborn
Isoenzymes - metabolism
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Medical sciences
Metabolic diseases
Reference Values
Skin - enzymology
Skin - metabolism
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Summary:Deficiency of the enzymes of mitochondrial fatty acid oxidation and related carnitine dependent steps have been shown to be one of the causes of the fasting-induced hypoketotic hypoglycemia. We describe here carnitine-acylcarnitine translocase deficiency in a neonate who died eight days after birth. The proband showed severe fasting-induced hypoketotic hypoglycemia, high plasma creatine kinase, heartbeat disorder, hypothermia, and hyperammonemia. The plasma-free carnitine on day three was only 3 microM, and 92% of the total carnitine (37 microM) was present as acylcarnitine. Treatments with intravenous glucose, carnitine, and medium-chain triglycerides had been tried without improvements. Measurements in fibroblasts confirmed deficient oxidation of palmitate and showed normal activities of the carnitine palmitoyltransferases I and II and of the three acyl-CoA dehydrogenases. A total deficiency of the carnitine-acyl-carnitine translocase was found in fibroblasts using the carnitine acetylation assay (1986. Biochem. J. 236:143-148). This assay has been further simplified by seeking conditions permitting application to permeabilized fibroblasts and lymphocytes.
ISSN:0021-9738
1558-8238
DOI:10.1172/JCI116288