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

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Synonyms
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; GALACTOSEMIA I; GALT deficiency; Galactose-1-phosphate uridyltransferase deficiency; Galactosemia, classic; Transferase Deficiency Galactosemia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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 (not covered in this chapter). 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 hypergonadatropic hypogonadism or 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 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.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Gerard T Berry
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Available tests

91 tests are in the database for this condition.

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Clinical tests (91 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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  • Also known as: , GALT
    Summary: galactose-1-phosphate uridylyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated total galactose with normal GALT enzyme activity, Primary or Secondary Hypergalactosemia, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia (Galactose Elevated)
  • ACMG ACT, 2021
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Absent/Reduced Galactose-1-Phosphate Uridyltransferase (GALT), Classic Galactosemia, 2021
  • ACMG Algorithm, 2021
    American College of Medical Genetics and Genomics, Algorithm, Galactosemia (GALT Deficiency), 2021
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Galactosemia (GALT Deficiency, Classical Galactosemia), 2012

Molecular resources

Consumer resources

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