TITLE

Chronic Intermittent Form of Isovaleric Acidemia Mimicking Diabetic Ketoacidosis

AUTHOR(S)
Erdem, Ela; Cayonu, Nihal; Uysalol, Ezgi; Yildirmak, Z. Yildiz
PUB. DATE
May 2010
SOURCE
Journal of Pediatric Endocrinology & Metabolism;May2010, Vol. 23 Issue 5, p503
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
The article describes the case of a 10-year-old girl who presented with hyperglycemia and metabolic acidosis with an increased anion gap. Initial diagnosis was reportedly diabetic ketoacidosis, but further examination indicated chronic intermittent isovaleric acidemia. A discussion on isovaleric acidemia, a rare, autosomal recessive inborn error of leucine metabolism caused by deficiency of enzyme isovaleryl-coenzyme A dehydrogenase, is offered.
ACCESSION #
52312941

 

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