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GENATLAS PHENOTYPE
last update : 25-08-2009
Symbol GALTD
Location 9p13.3
Name galactosemia, type I
Other name(s)
  • GALT deficiency
    • Corresponding gene GALT
    Main clinical features
  • classic galactosemia with cardinal features of hepatomegaly, cataracts, and mental retardation and a broad range of phenotypic severity
  • feeding difficulties, vomiting, lethargy, diarrhea, jaundice, hepatomegaly, failure to thrive and developmental delay,
  • cataract , high frequency of ovarian failure
  • with high levels of galactose and galactitol in urine despite dietary restriction
    • Genetic determination autosomal recessive
    Prevalence birth incidence of classic galactosemia is astimated 1 per 47,000 in the white population
    Related entries . including Duarte variant of galactosemia (patients usually healthy, despite functional and structural abnormality in their galactose-1-phosphate uridylyltransferase); surgical biopsy of the liver showed marked fatty infiltration, periportal fibrosis, and cirrhosis . including cases of cataplerosis in patients with neonatal classical galactosemia presenting as citrin deficiency.(Feillet 2008)
    Function/system disorder metabolism/carbohydrates
    eye
    Type disease
    Gene product
    Name galactose-1-phosphate uridyltransferase (GALT)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     most patients are compound heterozygotes rather than true molecular homozygotes
    Remark(s)
    Genotype/Phenotype correlations
  • 4 bp 5' deletion is a causal mutation in Duarte galactosemia (Carney 2009)