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GALACTOSEMIA III (GALE-D)

GALACTOSEMIA III (GALE-D)
GALE DEFICIENCY; GALACTOSE EPIMERASE DEFICIENCY
230350
OMIM = Online Mendelian Inheritance of Men
79238
UDP-glucose 4-epimerase
5.1.3.2
1p36.11
E74.2
rare(1:6200 - 1:64800)
autosomal recessive
mutation in the UDP-galactose-4-epimerase gene
Milk-fed newborns with the mild form .. are well and have neither hyper-galactosemia, nor galactosuria, nor hyperaminoaciduria (Gitzelmann 1996). Severe forms of Galactosemia III has been reported by Holton et al. (1981) and Henderson et al. (1983).
Laboratory findingsD-Galactose normal/inc (serum)
    D-Galactose normal/inc (urine)
    Galactose-1-phosphate inc (erythrocytes)
    Transaminases (ASAT/ALAT) normal/inc (plasma)
    Uridine diphosphate galactose-4-epimerase dec (erythrocytes)
Symptomsaminoaciduria
liver failure
    Amino acids, urine
    cataract
    failure to thrive
    hearing defect, deafness
    hepatomegaly (large liver)
    hypotonia
    jaundice
    mental retardation
    motor retardation
    no clinical symptoms (probably)
    onset, infancy
    onset, neonatal
    speech development, delayed, abnormal
    splenomegaly (large spleen)
    vomiting