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Biomedical subjects

R Gitzelmann

Publications and source records attributed to R Gitzelmann.

At least 109 records · Page 6Linked to original sources
PubMed1977

Hepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl.

In the 13 years since hepatic glycogen synthetase deficiency was first described in identical twins no further cases seem to have been observed. We report a child who had suffered from occasional morning convulsions since the age of 7. Three 24-hour metabolic profiles showed fasting hypoglycaemia, hyperketonaemia, but normal lactate. Hyperglycaemia and hyperlactataemia occurred after meals. Glucagon caused a rise in glucose 3 hours after a meal with a fall in lactate and alanine; no effect of glucagon was seen after a 12-hour fast. Normal increments in glucose followed oral galactose or alanine. Liver and abdominal wall muscle biopsies were taken. Glycogen content was subnormal in liver but normal in muscle. Glycogen synthetase (EC 2.4.1.11) was virtually absent from liver but fully active in muscle. Hepatic glycogen synthetase deficiency causing fasting hypoglycaemia has been confirmed. It is postulated that some children with "ketotic hypoglycaemia" may suffer from this disorder.

Abdominal Muscles↗
PubMed1977

The dietary treatment of hepatic glycogen synthetase deficiency.

A child with glycogen synthetase deficiency has been treated for one year by more frequent feeding with a diet lower in carbohydrate and higher in protein than her previous diet. This treatment virtually abolished the overnight hyperketonaemia and daytime hyperglycaemia which occurred before treatment. On the new dietary regime the child has had no clinical symptoms of hypoglycaemia and her growth velocity has increased dramatically.

Dietary Carbohydrates↗
PubMed1977

Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families.

Eight persons who had no activity of uridine diphosphate galactose 4'-epimerase in their circulating blood cells are known today. They were healthy members of three different families. Propositi were newborns discovered in a mass screening test for blood galactose which registered high levels of erythrocyte galactose-1-phosphate. Epimerase deficiency was restricted to circulating blood cells, but in liver biopsy specimens, in cultured skin fibroblasts and in activated lymphocytes epimerase was found to be normally active. Heterozygotes had intermediate red cell epimerase activity. There were no symptoms of galactose intolerance and no pathology related to the enzyme defect. All 8 epimerase deficient persons had a ccdee Rhesus genotype. Attempts at demonstrating genetic linkage between the epimerase and Rhesus loci were unsuccessful because of the difficulty encountered in ascertaining epimerase heterozygosity. Individuals with hereditary UDP-galactose 4'-epimerase deficiency appear to produce an unstable mutant enzyme requiring higher NAD concentration for maximum activity.

Aged↗
PubMed1976

[Screening of newborns for inborn errors of galactose metabolism. Methods and results].

Three inborn errors of galactose metabolism as known today. Only two of them cause illness: the deficiencies of galactokinase and of galactose-l-phosphate uridyltransferase. Both can be detected through mass screening of newborns and are amenable to a simple and successful dietary treatment. Mass screening of newborns for disorders of galactose metabolism can be performed efficiently and inexpensively if it is incorporated in the general newborn screening program.

Biological Assay↗
PubMed1975

Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.

Stimulation with phytohemagglutinin of the leukocytes from six of the seven known individuals with UDP-galactose 4-epimerase (= UDP-glucose 4-epimerase; EC 5.1.3.2) deficiency consistently resulted in the appearance of epimerase activity in the cultured cells. A long-term lymphoblast culture derived from one proband also contained an active epimerase enzyme. A comparison of the properties of this enzyme with those of epimerase produced by control lymphoblast lines revealed comparable Km values for UDP-galactose and NAD and identical behavior on polyacrylamide electrophoresis. However, a difference in the NAD requirement for heat stability at 40 degree provided some evidence for a structural defect in this enzyme. Possible explanations for the appearance of UDP-galactose 4-epimerase activity in stimulated lymphocytes include an increased rate of synthesis of a mutant enzyme and a derepression of an epimerase locus during lymphocyte transformation.

Carbohydrate Epimerases↗
PubMed1975

Catalytically inactive sucrase antigen of rabbit small intestine: the enzyme precursor.

By immunofluorescence microscopy using a specific antibody to the active rabbit sucrase-isomaltase complex, a catalytically inactive sucrase antigen was discovered on the small intestinal mucosa of young rabbits still lacking sucrase activity. In adult rabbits, the same antigen was demonstrated on enterocytes of mucosal crypts devoid of sucrase. Catalytically inactive antigen was isolated by means of immobilized antibody to active sucrase, and it was compared with the active sucrase-isomaltase complex. From structural similarities between the 2 proteins and from the fact that active sucrase succeeds the inactive antigen in both the maturing and the mature rabbit, it is concluded that the inactive antigen is the enzyme precursor. In some patients with hereditary sucrase-isomaltase deficiency, abnormal persistence of sucrase precurosr due to a faulty activation mechanism may be the underlying defect.

Age Factors↗
PubMed1975

Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.

Two siblings suffered from Ehlers-Danlos syndrome characterized by skin fragility, joint laxity and dermal hyperelasticity. The association with microcornea and muscle hypotonia allowed the preliminary classification into type VI according to McKusick. Ultrastructure analysis of skin biopsies revealed poor integration of collagen fibrils into fibres; accordingly, the texture of the connective tissue appeared irregular. Lysyl hydroxylase activity of cultured skin fibroblasts was markedly reduced in the cells of the two patients. Preliminary studies revealed intermediate activity in the cells cultured from the skin of the parents. This finding suggested an autosomal recessive mode of inheritance. Unexpectedly and in contrast to the 3 cases reported in the literature, the hydroxylysine deficit in the patients' skin was, for reasons not yet understood, only mild. Therefore, amino acid analysis of skin is not adequate for the diagnosis of lysyl hydroxylase-deficient Ehlers-Danlos syndrome type VI.

Adolescent↗