title: Galactosaemia in black South African children.
abstract: OBJECTIVE
  To evaluate the clinical and biochemical features of all black children confirmed to have galactosaemia from the KwaZulu Natal Province of South Africa.
  
  
  METHODS
  Prospective laboratory study.
  
  
  METHODS
  These included all black children with the presenting clinical features suggestive of the diagnosis of galactosaemia.
  
  
  METHODS
  Department of Chemical Pathology, King Edward VIII Hospital, Durban, South Africa.
  
  
  METHODS
  In each case, urine was screened for the presence of a reducing substance using urinary dipstick followed by thin layer chromatography to establish the presence of galactosaemia. The diagnosis of galacotosaemia was then confirmed by analysis of galactose-1 phosphate uridyl transferase (GALT) activity in the erythrocytes using the established Beutler enzyme assay procedure. Age and sex-matched samples were used as controls for GALT activity. The presenting clinical features of each patient on admission were also recorded.
  
  
  METHODS
  Patients confirmed to have galactosaemia were immediately placed on a galactose free diet.
  
  
  RESULTS
  The age distribution of affected individuals varied from six weeks to 27 months with 60% of the children being males. The most common presenting clinical features were jaundice in 77% of the patients, failure to thrive 62%, and cataracts 54%. Four patients had complete absence of GALT activity. Two infants who displayed acute toxicity symptoms and positive urine galactose, exhibited normal GALT activity.
  
  
  CONCLUSIONS
  GALT deficiency is the most common form of galactosaemia in black children in the KwaZulu Natal region. Cases of galactokinase or epimerase enzyme deficiency appear to be present. Further investigation is required to establish the occurrence and prevalence of the latter in affected individuals in this region.
authors.affiliation: Department of Chemical Pathology, Faculty of Medicine, University of Natal, Durban, South Africa.
authors.forename: P J
authors.initials: PJ
authors.lastname: Ojwang
authors.forename: T
authors.initials: T
authors.lastname: Manickum
authors.forename: W M
authors.initials: WM
authors.lastname: Deppe
mesh_terms: D017677:Age Distribution; D044383:Black People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000737:chemistry; D005260:Female; D005693:Galactosemias / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D008403:Mass Screening / Q000379:methods*; D015995:Prevalence; D011446:Prospective Studies; D017678:Sex Distribution; D013019:South Africa / Q000453:epidemiology; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000032:analysis / Q000172:deficiency
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase