Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation.
In eight patients with disorders of fatty acid oxidation, analysis of uric acid and creatine kinase served as indicators of the underlying disorder in episodes of acute metabolic imbalance. Six patients had deficiency of medium-chain acyl-CoA dehydrogenase, one had long-chain hydroxyacyl-CoA dehydrogenase deficiency, and one very long-chain acyl-CoA dehydrogenase deficiency. The most common presentation was with symptomatic hypoglycemia; there was one Reye-like presentation and one of rhabdomyolysis. The mechanism of the elevation of uric acid and creatine kinase appears to be the breakdown of tissue.


CONCLUSIONS
it is concluded that uric acid and creatine kinase provide a useful alerting signal to the presence of a disorder of fatty acid oxidation. Maximal levels of uric acid in this series were 6.2-21.5 mg/dl and of creatine kinase 879-27,557 U/l.
Marsden
D
D
New England Newborn Screening Program, University of Massachusetts, Jamaica Plain, USA.
Nyhan
W L
WL
Barshop
B A
BA
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D000293:Adolescent; D015415:Biomarkers / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000032:analysis*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010084:Oxidation-Reduction; D014527:Uric Acid / Q000032:analysis*
D015415:Biomarkers; D014527:Uric Acid; D015094:3-Hydroxyacyl CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D003402:Creatine Kinase