title: Rare case of homozygous epimerase deficiency and heterozygous of duarte 2 variant.
abstract: We present a rare case of galactosemia identified by a positive screening test. A 20-day-old female infant was admitted with jaundice and bloody stained diarrhea. There was no history of fever, convulsions, abdominal distention, or bleeding from other sites. Laboratory findings indicated elevated total billirubin, alanine transaminase, aspartate aminotransferase, alkaline phosphatase, and gamma-glutamyl transferase. International normalized ratio (INR), prothrombin time (PT) and activated partial thromboplastin time (aPTT) were prolonged. Total vitamin D was low. Quantitative assay for GALT in hemolysates of RBC: 17 μmol/min/mg protein (normal values: 20-35) (compound heterozygous for D2/N: 16-19). GALE level in RBC hemolysate: 11.5 μmol/h/g Hb (normal values 19-35). Our patient was homozygous for the peripheral form of epimerase deficiency galactosemia, as well as heterozygous for GALT/(D2) deficiency. She was started on galactose restricted diet and vitamin supplementation. At the age of 10 months, the patient appeared normal with no signs of developmental delay or eye-cataract.
authors.forename: Eleana Georgia
authors.initials: EG
authors.lastname: Koliofoti
authors.forename: Despoina
authors.initials: D
authors.lastname: Gkentzi
authors.forename: Anastasia
authors.initials: A
authors.lastname: Varvarigou
authors.forename: Maria
authors.initials: M
authors.lastname: Trigka
authors.forename: Kleopatra
authors.initials: K
authors.lastname: Schulpis
mesh_terms: D005260:Female; D005693:Galactosemias / Q000175:diagnosis* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn