Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1993 Mar;91(3):1247-52.
doi: 10.1172/JCI116288.

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

S V Pande  1 , M Brivet, A Slama, F Demaugre, C Aufrant, J M Saudubray
Affiliations
Case Reports

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

S V Pande et al. J Clin Invest. 1993 Mar.

Abstract

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.

PubMed Disclaimer

References

    1. Science. 1973 Nov 20;182(4115):929-31 - PubMed
    1. J Biol Chem. 1951 Nov;193(1):265-75 - PubMed
    1. N Engl J Med. 1975 Nov 20;293(21):1078-84 - PubMed
    1. N Engl J Med. 1980 Jan 10;302(2):123-4 - PubMed
    1. J Biol Chem. 1980 Apr 10;255(7):2994-3001 - PubMed

Publication types

MeSH terms