Clinical Chemistry
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Clinical Chemistry 38: 307-309, 1992;
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Clinical Chemistry, Vol 38, 307-309, Copyright © 1992 by American Association for Clinical Chemistry

Increased plasma amylase in the family of a patient with 3-hydroxy-3- methylglutaryl-coenzyme A lyase deficiency

E Plochl, JP Colombo, B Wermuth and KM Gibson
Children's Hospital, Salzburg, Austria.

A patient with 3-hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase, EC 4.1.3.4) deficiency presented consistently above-normal values of plasma amylase (EC 3.2.1.1). Activities measured were in the lower normal range in family members not proven heterozygotes and in the upper normal range in the proven heterozygotes. Heterozygosity was proven by intermediate HMG-CoA lyase activities determined in cultured fibroblasts and in lymphocytes in the parents and the paternal grandmother. Because all of the family members had diseases of the pancreas, colon, and liver, we question whether the heterozygote state contributes to the impaired function of these organs. Our findings of significantly increased amylase activities in the heterozygotes and the patient, in comparison with the other family members, support this hypothesis.




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Copyright © 1992 by the American Association for Clinical Chemistry.