FaCD Online Syndrome Fact Sheet

Last updated: 13 Apr 2008

Name: Galactosemia

Synonym: Galactose-1-Phosphate Uridyltransferase Deficiency

Mode of Inheritance: AR

Genes

GALT, mapped to 9p13

Tumor features

hepatocellular cancer (hepatoma)

Non-tumor features

anemia
cataract
developmental delay/mental deficiency/mental retardation
hepatomegaly
hypergonadotropic hypogonadism
immunodeficiency
liver cirrhosis

Comment

Clinical hallmarks are failure to thrive, hepatomegaly and liver cirrhosis, early-onset cataracts and mental retardation. Postcirrhotic hepatocellular cancer may develop as a complication of the disease. Although it had been suggested that heterozygote women were at an increased risk to develop ovarian cancer (and premature ovarian failure) Kaufman et al.[1] could not confirm this. The disorder is caused by a deficiency of galactose-1-phosphate uridyltransferase[2]

References

[1] Kaufman FR, Devgan S, Donnell GN. Results of a survey of carrier women for the galactosemia gene. Fertil Steril 1993; 60(4):727-728.
[2] Wang BB, Xu YK, Ng WG, Wong LJ. Molecular and biochemical basis of galactosemia. Mol Genet Metab 1998; 63(4):263-269.