Urinary amylase isoenzymes and amylase polymorphism variants in families with diabetes mellitus type 1.

Insulin-dependent diabetes mellitus type 1 is an autoimmune disease of pancreatic beta-cells with a certain genetic predisposition that is not yet clear. In spite of the confirmed association of diabetes mellitus type 1 with several HLA haplotypes it is considered that other loci must be involved for total genetic susceptibility to the disease. The relationship of insulin deficiency and decreased pancreatic amylase activity suggests that insulin itself is a direct activator of amylase gene expression.

[Screening for alpha 1-antitrypsin deficiency in neonates].

In a two-year investigation 113,274 children were screened for alpha-1-antitrypsin deficiency. An original and cheap method was used. In children with an alpha-1-antitrypsin values lower than 1.

[Insulin, glucose, proteins and amylase in the saliva of obese children].

The authors examined the insulin, glucose, total protein concentrations and amylase activity in the saliva of normal (n = 7) and obese subjects (n = 14) before and after a meal. The variability of the values of the investigated parameters in different subjects is considerable. During repeated examinations of the same normal subjects after a prolonged time interval the responses under similar condition in saliva is 17.

Severe lactose intolerance with lactosuria and vomiting.

An infant with lactose intolerance is described. A breast-fed infant developed vomiting at 3 weeks, and became dehydrated. Lactosuria, aminoaciduria, and liver damage were preesent.

PKU locus: genetic linkage with human amylase (Amy) loci and assignment to linkage group I.

The linked alpha-amylase loci Amy 1 and Amy 2 were evaluated for their linkage relationship to the PKU locus using data collected from two (one Czech and one Polish) groups of families. The five sibships informative for Amy 1:PKU give a z score of 1.505 at theta = 0.

Haemorrhagic diathesis as a possible early sign of hereditary fructose intolerance.

An infant girl three weeks of age with the leading symptom of skin haemorrhages is presented. On further investigation, the signs of severe hepatic damage with hypofibrinogenaemia and prothrombin complex impairment, and renal tubular dysfunction were disclosed. All these pathological symptoms, which were reversed on fructose free diet, were caused by hereditary fructose intolerance.