A PATIENT WITH HEREDITARY GALACTOKINASE DEFICIENCY

Publisher Website
Google Scholar
Abstract
SUMMARY: A case of hereditary galactokinase deficiency is reported, occurring in a newborn boy and detected through routine screening of newborns for increased blood concentration of galactose. Symptoms were equivocal and consisted only of mild feeding difficulties and a slightly insufficient weight gain. The only abnormality found on clinical examination was lens opacities which were obvious when the boy was 5 weeks old. The biochemical abnormalities found were: excretion of large amounts of galactose and ga‐lactitol in the urine, galactosemia, and essentially no galactokinase activity in the red blood cells. On a galactose‐free diet, introduced when the boy was 3½ weeks old, he grew and developed normally, his cataracts had improved considerably after 4 months. The boy's both parents, one brother and possibly one sister were considered carriers of the autosomal recessive gene, as the enzyme activity found in their red blood cells was roughly half of the normal value.The clinical findings in patients with the various enzyme defects leading to galactosemia are described and related to the biochemical abnormalities caused by the defects. Possible screening methods are discussed.

This publication has 21 references indexed in Scilit: