title: Two familial cases of high blood galactose of unknown aetiology.
abstract: We report two male siblings presenting as newborns with increased blood galactose, urinary excretion of galactitol, and normal galactose 1-phosphate on a breast milk diet. A lactose-free diet led to normalization of all metabolites, while reintroduction of galactose in the diet resulted in an accumulation of metabolites. Potential causes of galactosaemia include: (1) activities of three enzymes of galactose metabolism: galactokinase (GALK), galactose-1-phosphate uridyltransferase (GALT), and uridine diphosphate galactose 4'-epimerase (GALE), (2) portosystemic shunting, (3) Fanconi-Bickel syndrome, (4) tyrosinaemia. Each was excluded with appropriate tests. These two familial cases may represent a novel autosomal or X-linked recessive disorder of galactose metabolism, possibly due to a novel defect in the transport of galactose across the plasma membrane.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.forename: Antone R
authors.initials: AR
authors.lastname: Opekun
authors.forename: William J
authors.initials: WJ
authors.lastname: Craigen
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D002462:Cell Membrane / Q000378:metabolism; D041321:Chromosomes, Human, X / Q000235:genetics; D005192:Family Health; D004376:Galactitol / Q000652:urine; D005690:Galactose / Q000097:blood*; D005693:Galactosemias / Q000175:diagnosis* / Q000235:genetics*; D005695:Galactosephosphates / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007785:Lactose / Q000378:metabolism; D008297:Male
chemical_list: D005695:Galactosephosphates; D004376:Galactitol; C029973:galactose-1-phosphate; D007785:Lactose; D005690:Galactose