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Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

MedGen UID:
82777
Concept ID:
C0268151
Disease or Syndrome
Synonyms: Galactose-1-phosphate uridyltransferase deficiency; GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Galactosemia, classic; GALT deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Deficiency of UTP-hexose-1-phosphate uridylyltransferase (398664009); UTP-hexose-1-phosphate uridyltransferase deficiency (398664009); Deficiency of uridyl transferase (124354006); Deficiency of hexose-1-phosphate uridylyltransferase (124354006); Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (124354006); GALT deficiency (124354006); Classical galactosemia (124354006); Deficiency of galactose-1-phosphate uridyl transferase (124354006); Transferase deficiency galactosemia (124354006); Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (398664009); Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (124354006)
 
Gene (location): GALT (9p13.3)
OMIM®: 230400
Orphanet: ORPHA79239

Disease characteristics

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. [from GeneReviews]
Authors:
Gerard T Berry   view full author information

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/230400
From GHR
Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose.Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency).Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.  https://ghr.nlm.nih.gov/condition/galactosemia

Clinical features

Primary hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Diarrhea means that you have loose, watery stools more than three times in one day. You may also have cramps, bloating, nausea and an urgent need to have a bowel movement. . Causes of diarrhea include bacteria, viruses or parasites, certain medicines, food intolerances and diseases that affect the stomach, small intestine or colon. In many cases, no cause can be found. . Although usually not harmful, diarrhea can become dangerous or signal a more serious problem. You should talk to your doctor if you have a strong pain in your abdomen or rectum, a fever, blood in your stools, severe diarrhea for more than three days or symptoms of dehydration. If your child has diarrhea, do not hesitate to call the doctor for advice. Diarrhea can be dangerous in children. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
Enlargement of the liver.
Liver Cirrhosis
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to . -Easy bruising or bleeding, or nosebleeds. -Swelling of the abdomen or legs . -Extra sensitivity to medicines. -High blood pressure in the vein entering the liver. -Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly. - Kidney failure. -Jaundice. -Severe itching. -Gallstones. A small number of people with cirrhosis get liver cancer. Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy. Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Abnormal liver function
MedGen UID:
39248
Concept ID:
C0086565
Pathologic Function
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Galactosemia
MedGen UID:
8943
Concept ID:
C0016952
Disease or Syndrome
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.
Aminoaciduria
MedGen UID:
116067
Concept ID:
C0238621
Disease or Syndrome
An increased concentration of an amino acid in the urine.
Galactosuria
MedGen UID:
120615
Concept ID:
C0268157
Disease or Syndrome
Elevated concentration of galactose in the urine.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase in Orphanet.

Recent clinical studies

Etiology

Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A
Indian Pediatr 2016 Jan;53(1):27-31. PMID: 26840667
Timmers I, Zhang H, Bastiani M, Jansma BM, Roebroeck A, Rubio-Gozalbo ME
J Inherit Metab Dis 2015 Mar;38(2):295-304. Epub 2014 Oct 25 doi: 10.1007/s10545-014-9780-x. PMID: 25344151Free PMC Article
Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP, Fridovich-Keil JL
J Clin Endocrinol Metab 2013 Jul;98(7):E1257-65. Epub 2013 May 20 doi: 10.1210/jc.2013-1374. PMID: 23690308Free PMC Article
Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL
J Inherit Metab Dis 2013 Nov;36(6):1049-61. Epub 2013 Jan 15 doi: 10.1007/s10545-012-9575-x. PMID: 23319291Free PMC Article
Coss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, Crushell E, Knerr I, Monavari AA, Treacy EP
J Inherit Metab Dis 2013 Jan;36(1):21-7. Epub 2012 Jul 3 doi: 10.1007/s10545-012-9507-9. PMID: 22870861

Diagnosis

Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A
Indian Pediatr 2016 Jan;53(1):27-31. PMID: 26840667
Martinelli D, Bernardi B, Napolitano A, Colafati GS, Dionisi-Vici C
Neurology 2016 Jan 19;86(3):e32-3. doi: 10.1212/WNL.0000000000002284. PMID: 26783274
Timmers I, Zhang H, Bastiani M, Jansma BM, Roebroeck A, Rubio-Gozalbo ME
J Inherit Metab Dis 2015 Mar;38(2):295-304. Epub 2014 Oct 25 doi: 10.1007/s10545-014-9780-x. PMID: 25344151Free PMC Article
Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP, Fridovich-Keil JL
J Clin Endocrinol Metab 2013 Jul;98(7):E1257-65. Epub 2013 May 20 doi: 10.1210/jc.2013-1374. PMID: 23690308Free PMC Article
Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL
J Inherit Metab Dis 2013 Nov;36(6):1049-61. Epub 2013 Jan 15 doi: 10.1007/s10545-012-9575-x. PMID: 23319291Free PMC Article

Therapy

Timson DJ
Gene 2016 Sep 10;589(2):133-41. Epub 2015 Jul 2 doi: 10.1016/j.gene.2015.06.077. PMID: 26143117
Davies P, Connor E, MacKenzie J, Jamieson MA
J Pediatr Adolesc Gynecol 2015 Aug;28(4):e101-3. Epub 2014 Sep 16 doi: 10.1016/j.jpag.2014.09.003. PMID: 26024933
Batey LA, Welt CK, Rohr F, Wessel A, Anastasoaie V, Feldman HA, Guo CY, Rubio-Gozalbo E, Berry G, Gordon CM
Osteoporos Int 2013 Feb;24(2):501-9. Epub 2012 Apr 19 doi: 10.1007/s00198-012-1983-0. PMID: 22525982
Ryan EL, DuBoff B, Feany MB, Fridovich-Keil JL
Dis Model Mech 2012 Nov;5(6):796-803. Epub 2012 Jun 26 doi: 10.1242/dmm.009050. PMID: 22736462Free PMC Article
Verma S, Bharti B, Inusha P
Indian J Pediatr 2010 Jun;77(6):695-6. Epub 2010 Jun 8 doi: 10.1007/s12098-010-0082-5. PMID: 20532692

Prognosis

Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A
Indian Pediatr 2016 Jan;53(1):27-31. PMID: 26840667
Martinelli D, Bernardi B, Napolitano A, Colafati GS, Dionisi-Vici C
Neurology 2016 Jan 19;86(3):e32-3. doi: 10.1212/WNL.0000000000002284. PMID: 26783274
Timmers I, Zhang H, Bastiani M, Jansma BM, Roebroeck A, Rubio-Gozalbo ME
J Inherit Metab Dis 2015 Mar;38(2):295-304. Epub 2014 Oct 25 doi: 10.1007/s10545-014-9780-x. PMID: 25344151Free PMC Article
Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP, Fridovich-Keil JL
J Clin Endocrinol Metab 2013 Jul;98(7):E1257-65. Epub 2013 May 20 doi: 10.1210/jc.2013-1374. PMID: 23690308Free PMC Article
Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL
J Inherit Metab Dis 2013 Nov;36(6):1049-61. Epub 2013 Jan 15 doi: 10.1007/s10545-012-9575-x. PMID: 23319291Free PMC Article

Clinical prediction guides

Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A
Indian Pediatr 2016 Jan;53(1):27-31. PMID: 26840667
Timmers I, Zhang H, Bastiani M, Jansma BM, Roebroeck A, Rubio-Gozalbo ME
J Inherit Metab Dis 2015 Mar;38(2):295-304. Epub 2014 Oct 25 doi: 10.1007/s10545-014-9780-x. PMID: 25344151Free PMC Article
Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP, Fridovich-Keil JL
J Clin Endocrinol Metab 2013 Jul;98(7):E1257-65. Epub 2013 May 20 doi: 10.1210/jc.2013-1374. PMID: 23690308Free PMC Article
Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL
J Inherit Metab Dis 2013 Nov;36(6):1049-61. Epub 2013 Jan 15 doi: 10.1007/s10545-012-9575-x. PMID: 23319291Free PMC Article
Jumbo-Lucioni PP, Hopson ML, Hang D, Liang Y, Jones DP, Fridovich-Keil JL
Dis Model Mech 2013 Jan;6(1):84-94. Epub 2012 Jul 5 doi: 10.1242/dmm.010207. PMID: 22773758Free PMC Article

Recent systematic reviews

Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT
Mol Genet Metab 2014 Jul;112(3):191-7. Epub 2014 May 2 doi: 10.1016/j.ymgme.2014.04.004. PMID: 24857409
Walter JH, Collins JE, Leonard JV
Arch Dis Child 1999 Jan;80(1):93-6. PMID: 10325771Free PMC Article

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