الفهرس 
Clinical presentations and complications of galactosemia
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Abstract
Classic galactosemia is a hereditary, autosomal recessive disorder of galactose metabolism occurring due to deficiency of galactose 1 phosphate uridyltransferase (GALT) enzyme, and responding to galactose restricted diet. In the absence of this enzyme, galactose is converted to toxic by-products (galactitol, galactose 1 phosphate, galctonate) that affect liver, kidney, brain, lens and gonads causing serious complications if untreated. Clinical symptoms appear early in infancy, after galactose ingestion, with jaundice, vomiting, failure to thrive, hepatosplenomegaly, hepatocellular insufficiency, sepsis and cataracts. The gold standard for diagnosis is measurement of galactose-1-phosphate uridyltransferase (GALT) enzyme activity in erythrocytes. The aim of this study was to define the spectrum of clinical presentations and complications of galactosemia in infants and children attending pediatric hepatology clinic, at the New children hospital, Cairo university, Egypt