GTR Home > Conditions/Phenotypes > Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Disease characteristics

Excerpted from the GeneReview: Classic Galactosemia and Clinical Variant Galactosemia
The term galactosemia refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia. This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E. coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening (NBS) as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications including POI.

Associated genes

Clinical features

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  • Intellectual disability
  • Cognitive impairment
  • Incoordination
  • Cataract
  • Diarrhea
  • hyperchloremic metabolic acidosis
  • Tremor
  • Failure to thrive
  • Reduced bone mineral density
  • Feeding difficulties in infancy
  • Vomiting
  • Decreased fertility
  • Hypergonadotropic hypogonadism
  • Cirrhosis
  • Decreased liver function
  • Abnormality of the voice
  • Weight loss
  • Hemolytic anemia
  • Metabolic acidosis
  • Hypoglycemia
  • Neurological speech impairment
  • Hepatomegaly
  • Aminoaciduria
  • Reduced consciousness/confusion
  • Premature ovarian failure
  • Chronic hepatic failure
  • Sepsis
  • Galactosuria
  • Hypergalactosemia
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Go to complete MedGen record for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Clinical resources

Practice guidelines

  • CDC MMWR 2012
    Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
  • ACMG ACT Sheets, 2001
    American College of Medical Genetics ACT SHEETs, Newborn Screening ACT Sheets and Confirmatory Algorithms

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