A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults
- PMID: 12682504
- DOI: 10.1097/01.CCM.0000045201.10682.F6
A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults
Abstract
Objective: To describe an acutely decompensated adult patient with very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.
Design: Case report.
Setting: Medical intensive care unit of the University Hospital Hamburg-Eppendorf, Germany.
Patient: A 32-yr-old female comatose patient with persistent hypoglycemia, rhabdomyolysis, and acute cardiomyopathy after a prolonged history of recurrent muscular weakness.
Interventions and measurements: Treatment in the intensive care unit for 20 days. The combination of symptoms led to the detection of increased dicarboxylic acids in her urine and an abnormal profile of acylcarnitines in her blood. In cultured fibroblasts, the oxidation of palmitate, measured as the production of acetylcarnitine, was reduced. Direct measurement of VLCAD activity proved to be 30% of normal. DNA analysis showed two different mutations in the VLCAD gene of the patient.
Results: The patient fully recovered.
Conclusions: Genetic defects of fatty acid oxidation should be suspected, even in previously healthy adults, when typical symptoms such as nonketotic hypoglycemia, rhabdomyolysis, cardiomyopathy, or unexplained organ steatosis point to such a disorder of energy metabolism.
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