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Biomedical subjects

E Pronicka

Publications and source records attributed to E Pronicka.

At least 55 records · Page 3Linked to original sources
PubMed1985

Disturbances in histidine metabolism in children with speech abnormalities.

Catabolism of histidine was investigated in 24 patients with different speech and language disorders and with significantly low histidase activity in stratum corneum. No classical histidinemia was found. Biochemical investigation of these patients after loading with L-histidine led to the conclusions that low histidase activity in stratum corneum was connected with: disturbances in folic acid metabolism (2 cases); "atypical histidinemia" (1 case); heterozygotes of histidinemia (2 cases); normal liver histidine metabolism but abnormal in other tissues (18 cases); previously unknown error of histidine metabolism (1 case).

Ammonia-Lyases↗
PubMed1985

Asymptomatic decreased activities of hepatic glucose-6-phosphatase and glycogen phosphorylase in a number of children with chronic liver disease.

The evaluation of hepatic degradation of glycogen in patients with different chronic liver diseases was carried out on the basis of: a) specific activities of hepatic enzymes involved in catabolism of glycogen; b) level of glycogen in liver biopsies; c) concentration of glucose and cAMP in serum after the intravenous administration of glucagon. In 13 out of 35 patients investigated the activity of glucose-6-phosphatase was decreased to 14-50% of the control value. In the livers of 3 patients glycogen phosphorylase activity was decreased to 10% of the control value. In patients with the significantly low activities of hepatic glucose-6-phosphatase and phosphorylase a, however, normal catabolism of glycogen in the liver was observed, neither hypoglycemia nor abnormal glycogen storage in liver biopsies nor abnormal response to glucagon being found. In the group of patients with decreased and normal activities of glucose-6-phosphatase and phosphorylase a, biochemical parameters in the serum (i.e. markers of liver damage) were not detectable. Possible causes of the selective and asymptomatic decrease in the activities of glucose-6-phosphatase and phosphorylase a are discussed.

Adolescent↗
PubMed1985

A case of Menkes disease cell culture examination and elastic cartilage electronmicroscopy.

A boy with clinical characteristics of Menkes disease was described. Extremely low serum copper concentration, low ceruloplasmin level and increased copper accumulation in cultured fibroblasts confirmed the diagnosis. Electronmicroscopy of elastic cartilage showed abnormalities of chondrocyte function and a derangement of extracellular substance polymerization.

Brain Diseases, Metabolic↗