ABSTRACT
Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and complications of galactosemia at Pediatric Hepatology Clinic, Cairo University, Egypt. Thus, the clinical presentation, course and outcome of 37 children with documented galactosemia was studied. Jaundice was the main presentation (67.6%). Other presentations included; convulsions (29.7%), motor retardation (24.3%), mental retardation (5.4%), microcephaly (5.4%), failure to thrive (16.2%), hepatomegaly (62.2%), splenomegaly (35.1%), vomiting (16.2%), diarrhea (8.1%), liver cell failure (10.8%), renal tubular acidosis (5.4%), cataract (5.4%), autoimmune hepatitis (2.7%), self-mutilation (2.7%), combined immune deficiency (2.7%) and kernicterus (2.7%). There was no correlation of residual enzyme activity to severity, clinical presentation, liver function tests, liver biopsy findings or outcome apart from highly significant correlation with repeated chest infections (Pâ¯=â¯0.001). Duration to diagnosis and exposure to galactose in diet correlated with liver pathology severity i.e. hepatocyte necrosis (Pâ¯=â¯0.003) and cytoskeleton damage (Pâ¯=â¯0.003), but not to outcome. Galactosemia should be suspected in any child with liver, neurologic disease and/or immunodeficiency. Its complications are potentially preventable. Early detection is mandatory to prevent serious morbidity and mortality. Initiation of neonatal screening for galactosemia in Egypt is recommended.
