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galactosemia

MIM.230400 9p13

Wednesday 2 July 2008

Definition: Autosomal recessive metabolic disease caused by mutations in galactose-1-phosphate uridyltransferase gene (GALT) (MIM.230400).

Synospsis

- failure to thrive
- cataract
- hepatomegaly
- lobular cholestasis
- hepatocytic steatosis
- cataracts
- neurological impairment

  • learning disabilities
  • tremors
  • mental retardation if untreated
  • speech abnormality if untreated

- decreased liver function, progressive
- cirrhosis if untreated
- vomiting
- diarrhea
- ovarian failure due to hypergonadotropic hypogonadism
- hypergonadotropic hypoestrogenic infertility (19793842)
- hemolytic anemia
- high incidence of E. coli sepsis in untreated neonates

Laboratory

- Galactose-1-phosphate uridyltransferase deficiency
- In untreated patients

  • elevated blood galactose urine reducing substances (galactosuria)
  • hyperchloremic metabolic acidosis
  • aminoaciduria
  • elevated liver enzymes
  • albuminuria

Etiology

- galactosemia is caused by mutation in the galactose-1-phosphate uridylyltransferase gene (GALT) (MIM.606999).

References

- Gonadal function in male and female patients with classic galactosemia. Rubio-Gozalbo ME, Gubbels CS, Bakker JA, Menheere PP, Wodzig WK, Land JA. Hum Reprod Update. 2010 Mar-Apr;16(2):177-88. PMID: 19793842