The reference OMIM entry for this protein is 230400

Galactosemia
Galactose-1-phosphate uridylyltransferase deficiency
Galt deficiency
Galactosemia, classic galactosemia, duarte variant

A number sign (#) is used with this entry because classic galactosemia is caused by homozygous or compound heterozygous mutation in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13.

DESCRIPTION

Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

CLINICAL FEATURES

The first detailed description of galactosemia was given by Goppert (1917). The proband (A.G.) presented with large liver, icterus, failure to thrive, and urinary excretion of albumen and sugar. After exclusion of galactose from the diet, these signs and symptoms normalized. He was mentally retarded (developmental quotient of 14 months at 36 months of age). He tolerated sucrose, maltose, glucose, and fructose at doses of 2 g/kg, but after lactose or galactose there was dose-dependent galactosuria. His oldest brother had suffered from icterus and liver enlargement a few days after birth and had had a life-threatening bleed after ritual circumcision. He died after 6 weeks. At autopsy, a huge liver tumor was present (attributed to syphilis, although subsequent Wassermann reactions were negative), and the cause of his death was attributed to nephritis. His third sib, born somewhat prematurely, became icteric, and died after 4 weeks. Goppert (1917) concluded that the patient was suffering from a familial liver disorder and that in such cases lactose must be replaced by another sugar, e.g., sucrose or maltose. Another early detailed description of galactosemia was given by Mason and Turner (1935). Segal (1989) presented a picture of a 30-year-old man diagnosed in infancy by Mason and Turner (1935). Failure to thrive is the most common initial clinical symptom of galactosemia. Vomiting or diarrhea usually begins within a few days of milk ingestion. Jaundice of intrinsic liver disease may be accentuated by the severe hemolysis occurring in some patients. Cataracts have been observed within a few days of birth. These may be found only on slit-lamp examination and missed with an ophthalmoscope, since they consist of punctate lesions in the fetal lens nucleus (Holton et al., 2001). There appears to be a high frequency of neonatal death due to E. coli sepsis, with a fulminant course (Levy et al., 1977). Litchfield and Wells (1978) suggested that this proneness to sepsis is due to inhibition of leukocyte bactericidal activity. Ruiz et al. (1999) concluded that coagulopathy may be present in galactosemia with little evidence of liver disease (Levy et al., 1996). They suggested, furthermore, that the association of jaundice and hemorrhagic diathesis in the first 2 weeks of life is a clinical presentation in which galactosemia must be considered. - Pregnancy Ovarian failure in many affected girls (Kaufman et al., 1979) may indicate in utero damage from galactosemia. Pregnancy is rare in women with galactosemia because of the high frequency of hypergonadotropic hypogonadism with ovarian atrophy. Harley et al. (1974) found low levels (presumably indicative of the heterozygous state) of galactose-1-phosphate uridylyltransferas ... More on the omim web site

Subscribe to this protein entry history

Oct. 19, 2018: Protein entry updated
Automatic update: OMIM entry 230400 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).