Distribution of serum amylase isoenzymes in cystic fibrosis homozygotes and heterozygotes. 1977

O Takács, and I Sohár, and A László, and P Pénzes, and K Gyurkovits

A simple method has been elaborated for the routine separation and quantitative determination of amylase isoenzymes. The ratio P/S, the quotient of the activity values obtained by densitometric evaluation of the pancreatic and salivary isoenzymes, is used to characterize their distribution. In healthy adults and children the value for P/S is above 1 in 80% of the cases, with a mean of 1.87 +/- 0.23. In 90% of heterozygote CF gene-carriers, the P/S is below 1 with a mean of 0.68 +/- 0.13. In addition to the higher total amylase activity, in MV homozygote patients P/S is less than 0.1, and even 0.001. The phenomenon is explained by a compensatory enhancement of salivary activity. The method is a suitable diagnostic test of the exocrine function of the pancreas and for evaluation of the serum amylase isoenzymes. The P/S value allows to differentiate heterozygote CF gene-carriers from homozygotes and healthy individuals.

UI MeSH Term Description Entries
D007527 Isoenzymes Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics. Alloenzyme,Allozyme,Isoenzyme,Isozyme,Isozymes,Alloenzymes,Allozymes
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000681 Amylases A group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans. (Stedman, 25th ed) EC 3.2.1.-. Diastase,Amylase

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