title: Possible galactosaemia in an Ethiopian: case report.
abstract: Galactosaemia should be considered in any infant who presents with cholestatic jaundice in early infancy, particularly in the face of previous neonatal deaths. Newborn screening programmes would have been ideal in early detection of the cases. The clinical manifestation, the urine test for reducing sugars and the amelioration of clinical features after 'milk-withdrawal' are quite indicative of the disease in centres where enzyme assays cannot be performed. Elimination of milk and milk products as well as other lactose containing sources from diet, secures an excellent outcome, provided that it is initiated early in life.
authors.affiliation: Department of Paediatrics and Child Health, Ethio-Swedish Children's Hospital, Addis Ababa, Ethiopia.
authors.forename: M
authors.initials: M
authors.lastname: Haddis
authors.forename: B
authors.initials: B
authors.lastname: Tekola
mesh_terms: D001786:Blood Glucose / Q000032:analysis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005693:Galactosemias / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn
chemical_list: D001786:Blood Glucose