title: Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).
abstract: We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of small amounts of galactose-1-phosphate uridyltransferase (GALT) activity, which differs from classical galactosaemia.
authors.affiliation: Childrens Hospital Los Angeles, Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, California 90027, USA. wng@chla.usc.edu
authors.forename: W G
authors.initials: WG
authors.lastname: Ng
authors.forename: Y K
authors.initials: YK
authors.lastname: Xu
authors.forename: L J
authors.initials: LJ
authors.lastname: Wong
authors.forename: F R
authors.initials: FR
authors.lastname: Kaufman
authors.forename: N R M
authors.initials: NR
authors.lastname: Buist
authors.forename: G N
authors.initials: GN
authors.lastname: Donnell
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics; D005260:Female; D005693:Galactosemias / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010053:Ovary / Q000502:physiology*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014531:Uridine Diphosphate Galactose / Q000378:metabolism; D014532:Uridine Diphosphate Glucose / Q000378:metabolism
chemical_list: D014531:Uridine Diphosphate Galactose; D004247:DNA; D014532:Uridine Diphosphate Glucose