title: 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.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Medical intensive care unit of the University Hospital Hamburg-Eppendorf, Germany.
  
  
  METHODS
  A 32-yr-old female comatose patient with persistent hypoglycemia, rhabdomyolysis, and acute cardiomyopathy after a prolonged history of recurrent muscular weakness.
  
  
  METHODS
  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.
authors.affiliation: Departments of Medicine, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Kluge
authors.forename: Peter
authors.initials: P
authors.lastname: Kühnelt
authors.forename: Andreas
authors.initials: A
authors.lastname: Block
authors.forename: Martin
authors.initials: M
authors.lastname: Merkel
authors.forename: Andreas
authors.initials: A
authors.lastname: Gocht
authors.forename: Zoltan
authors.initials: Z
authors.lastname: Lukacs
authors.forename: Alfried
authors.initials: A
authors.lastname: Kohlschütter
authors.forename: Georg
authors.initials: G
authors.lastname: Kreymann
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain; D000328:Adult; D003128:Coma / Q000150:complications*; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000150:complications*; D012206:Rhabdomyolysis / Q000150:complications*
chemical_list: D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain