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Article

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

15 Sept 1992

Abstract excerpt

Deficiency of carnitine palmitoyltransferase II (CPTase II; palmitoyl-CoA:L-carnitine O-palmitoyltransferase, EC 2.3.1.21) is a clinically heterogeneous autosomal recessive disorder of energy metabolism. We studied the molecular basis of CPTase II deficiency in an early-onset patient presenting with hypoketotic hypoglycemia and cardiomyopathy. cDNA and genomic DNA analysis demonstrated that the patient was...

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Share to Hyperglycemia and glycemic control in critically ill and hospitalized patients
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PMID: 1528846
DOI: 10.1073/pnas.89.18.8429

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