Hypoglycemia, Hepatic Dysfunction, Muscle Weakness, Cardiomyopathy, Free Carnitine Deficiency and Long-Chain Acylcarnitine Excess Responsive to Medium Chain Triglyceride Diet View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1983-05

AUTHORS

Allen M Glasgow, Andrew G Engel, Dennis M Bier, Lowell W Perry, Mary Dickie, Jane Todaro, Barbara I Brown, Merton F Utter

ABSTRACT

Fraternal twins who had fasting hypoglycemia, hypoketonemia, muscle weakness, and hepatic dysfunction are reported. The hepatic dysfunction occurred only during periods of caloric deprivation. The surviving patient developed a cardiomyopathy. In this sibling, muscle weakness and cardiomyopathy were markedly improved by a diet high in medium chain triglycerides. There was a marked deficiency of muscle total carnitine and a mild deficiency of hepatic total carnitine. Unlike patients with systemic carnitine deficiency, serum and muscle long-chain acylcarnitine were elevated and renal reabsorption of carnitine was normal. It was postulated that the defect in long-chain fatty acid oxidation in this disorder is caused by an abnormality in the mitochondrial acylcarnitine transport. Detailed studies of the cause of the hypoglycemia revealed that insulin, growth hormone, cortisol, and glucagon secretion were appropriate and that it is unlikely that there was a major deficiency of a glycolytic or gluconeogenic enzyme. Glucose production and alanine conversion to glucose were in the low normal range when compared to normal children in the postabsorptive state. The hypoglycemia in our patients was probably due to a modest increase in glucose consumption, secondary to the decreased oxidation of fatty acids and ketones, alternate fuels which spare glucose utilization, plus a modest decrease in hepatic glucose production secondary to decreased available hepatic energy substrates. More... »

PAGES

pr198385

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-198305000-00003

DOI

http://dx.doi.org/10.1203/00006450-198305000-00003

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008285768

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/6682967


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