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GTR Home > Conditions/Phenotypes > UDPglucose-4-epimerase deficiency

UDPglucose-4-epimerase deficiency

Synonyms
Epimerase Deficiency Galactosemia; GALACTOSEMIA III; Galactose epimerase deficiency; Galactosemia 3; UDP-Galactose-4-epimerase deficiency; UDPglucose 4-Epimerase Deficiency Disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Epimerase Deficiency Galactosemia
Epimerase deficiency galactosemia (GALE deficiency galactosemia) is generally considered a continuum comprising several forms: Generalized. Enzyme activity is profoundly decreased in all tissues tested. Peripheral. Enzyme activity is deficient in red blood cells (RBC) and circulating white blood cells, but normal or near normal in all other tissues. Intermediate. Enzyme activity is deficient in red blood cells and circulating white blood cells and less than 50% of normal levels in other cells tested. Infants with generalized epimerase deficiency galactosemia develop clinical findings on a regular milk diet (which contains lactose, a disaccharide of galactose and glucose); manifestations include hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, liver dysfunction, aminoaciduria, and cataracts. Prompt removal of galactose/lactose from their diet resolves or prevents these acute symptoms. Longer-term features that may be seen in those with generalized epimerase deficiency include short stature, developmental delay, sensorineural hearing loss, and skeletal anomalies. In contrast, neonates with the peripheral or intermediate form generally remain clinically well even on a regular milk diet and are usually only identified by biochemical testing, often in newborn screening programs.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Judith Fridovich-Keil
Lora Bean
Miao He
view full author information

Available tests

44 tests are in the database for this condition.

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Clinical tests (44 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SDR1E1, THC13, GALE
    Summary: UDP-galactose-4-epimerase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG Algorithm, 2022
    American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia (Galactose Elevated)
  • 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 ACT, 2022
    American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet Primary or Secondary Hypergalactosemia
  • ACMG ACT Sheet, 2010
    American College of Medical Genetics ACT SHEETs, Primary or Secondary Hypergalactosemia, 2010
  • ACMG Algorithm, 2009
    American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia, 2009

Molecular resources

Consumer resources

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