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Biomedical subjects

W K Hall

Publications and source records attributed to W K Hall.

9 recordsLinked to original sources

Hydroxyproline metabolism in two sisters with hydroxyprolinemia.

Hydroxyproline metabolism was evaluated in two sisters with hydroxyprolinemia and their mother. 33 and 21% of an oral hydroxyproline load (200 mg/kg) was excreted by the sisters, 5.4% by the mother, and 1.3% by normal subjects. Plasma and erythrocyte values in the sisters and their mother were elevated, indicating that extra- and intracellular hydroxyproline pools were increased. Analysis for urinary glycolate and oxalate (metabolic products of hydroxyproline) showed no increased excretion by the two sisters, although the mother's excretion was normal. A deficiency of hydroxyproline oxidase in the two sisters was indicated by the lack of delta 1-pyrroline-3-hydroxy-5-carboxylic acid excretion.

Adult↗

Loss of transferase enzyme activity of transfused erythrocytes in galactosemia.

Rapid loss of erythrocyte galactose-1-phosphate uridyl transferase in hemolysates from an infant 26 days after transfusion led to investigation of the possiblity of an unstable enzyme or other variant of galactosemia. However, the child was found to have the classic type of galactosemia. The seeming transferase instability was attributable to loss of enzyme activity in hemolysates from blood containg aged, transfused cells, the source of the enzyme. Thus when transfusion is necessary, transferase assay for diagnosis of the enzyme deficiency before transfusion avoids confusion attributable to the enzyme supplied in the transfused cells.

Adult↗