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Hypergalactosemia

MedGen UID:
892325
Concept ID:
C4023071
Finding
Synonym: Galactosemia
 
HPO: HP:0012024

Definition

Elevated concentration of galactose in the blood. [from HPO]

Conditions with this feature

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
MedGen UID:
82777
Concept ID:
C0268151
Disease or Syndrome
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.
Deficiency of galactokinase
MedGen UID:
120614
Concept ID:
C0268155
Disease or Syndrome
Galactosemia II (GALAC2), or galactokinase deficiency, is an autosomal recessive disorder that causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens (Asada et al., 1999). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400).
Patent ductus venosus
MedGen UID:
91033
Concept ID:
C0344688
Congenital Abnormality
A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).
UDPglucose-4-epimerase deficiency
MedGen UID:
199598
Concept ID:
C0751161
Disease or Syndrome
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.
Fanconi-Bickel syndrome
MedGen UID:
501176
Concept ID:
C3495427
Disease or Syndrome
Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.
Trichohepatoenteric syndrome 1
MedGen UID:
1644087
Concept ID:
C4551982
Disease or Syndrome
Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.
Galactosemia 4
MedGen UID:
1718159
Concept ID:
C5394377
Disease or Syndrome
Galactosemia IV (GALAC4) is an inborn error of galactose metabolism that presents in the neonatal period. Of the 8 affected children that have thus far been reported, none had gastrointestinal symptoms or severe liver dysfunction. Two had bilateral cataracts. All had normal growth and development (summary by Wada et al., 2019). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400).

Recent clinical studies

Etiology

Uike K, Nagata H, Hirata Y, Yamamura K, Terashi E, Matsuura T, Morihana E, Ohkubo K, Ishii K, Sakai Y, Taguchi T, Ohga S
Pediatr Pulmonol 2018 Apr;53(4):505-511. Epub 2018 Jan 23 doi: 10.1002/ppul.23944. PMID: 29359418
Kamimatsuse A, Onitake Y, Kamei N, Tajima G, Sakura N, Sueda T, Hiyama E
Pediatr Surg Int 2010 Oct;26(10):1025-30. doi: 10.1007/s00383-010-2662-x. PMID: 20661579
Kono T, Hiki T, Kuwashima S, Hashimoto T, Kaji Y
Pediatr Int 2009 Apr;51(2):276-82. doi: 10.1111/j.1442-200X.2008.02692.x. PMID: 19405932
Yagi H, Takada Y, Fujimoto Y, Ogura Y, Kozaki K, Ueda M, Tanaka K
Surg Today 2004;34(12):1049-52. doi: 10.1007/s00595-004-2851-0. PMID: 15580391
Couet C, Jan P, Debry G
J Am Coll Nutr 1991 Feb;10(1):79-86. doi: 10.1080/07315724.1991.10718130. PMID: 1901325

Diagnosis

Ifuku T, Suzuki S, Nagatomo Y, Yokoyama R, Yamamura Y, Nakatani K
BMC Pediatr 2022 Jun 29;22(1):379. doi: 10.1186/s12887-022-03447-3. PMID: 35768799Free PMC Article
Porta F, Pagliardini S, Pagliardini V, Ponzone A, Spada M
World J Pediatr 2015 May;11(2):160-4. Epub 2015 Mar 9 doi: 10.1007/s12519-015-0017-3. PMID: 25754754
Cho Y, Shimono T, Morikawa H, Shintaku H, Tokuhara D
Pediatr Int 2014 Dec;56(6):e102-e105. doi: 10.1111/ped.12456. PMID: 25521987
Kamimatsuse A, Onitake Y, Kamei N, Tajima G, Sakura N, Sueda T, Hiyama E
Pediatr Surg Int 2010 Oct;26(10):1025-30. doi: 10.1007/s00383-010-2662-x. PMID: 20661579
Kono T, Hiki T, Kuwashima S, Hashimoto T, Kaji Y
Pediatr Int 2009 Apr;51(2):276-82. doi: 10.1111/j.1442-200X.2008.02692.x. PMID: 19405932

Therapy

Avdjieva-Tzavella DM, Ivanova MB, Todorov TP, Todorova AP, Panteleeva EI, Tincheva SS, Lazarova EA, Kathom HM, Yaneva PG, Tincheva RS
Genet Couns 2014;25(3):271-6. PMID: 25365849
Nagasaka H, Miida T, Yorifuji T, Hirano K, Inui A, Fujisawa T, Tsukahara H, Hayashi H, Inomata Y
Clin Chim Acta 2013 Apr 18;419:52-6. Epub 2013 Feb 8 doi: 10.1016/j.cca.2013.01.016. PMID: 23399721
Tazawa Y, Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T
Mol Genet Metab 2004 Nov;83(3):213-9. doi: 10.1016/j.ymgme.2004.06.018. PMID: 15542392
Couet C, Jan P, Debry G
J Am Coll Nutr 1991 Feb;10(1):79-86. doi: 10.1080/07315724.1991.10718130. PMID: 1901325

Prognosis

Porta F, Pagliardini S, Pagliardini V, Ponzone A, Spada M
World J Pediatr 2015 May;11(2):160-4. Epub 2015 Mar 9 doi: 10.1007/s12519-015-0017-3. PMID: 25754754
Cho Y, Shimono T, Morikawa H, Shintaku H, Tokuhara D
Pediatr Int 2014 Dec;56(6):e102-e105. doi: 10.1111/ped.12456. PMID: 25521987
Kamimatsuse A, Onitake Y, Kamei N, Tajima G, Sakura N, Sueda T, Hiyama E
Pediatr Surg Int 2010 Oct;26(10):1025-30. doi: 10.1007/s00383-010-2662-x. PMID: 20661579
Reich S, Hennermann J, Vetter B, Neumann LM, Shin YS, Söling A, Mönch E, Kulozik AE
Pediatr Res 2002 May;51(5):598-601. doi: 10.1203/00006450-200205000-00009. PMID: 11978883
Uchino T, Matsuda I, Endo F
J Pediatr 1999 Aug;135(2 Pt 1):254-6. doi: 10.1016/s0022-3476(99)70031-4. PMID: 10431123

Clinical prediction guides

Abate M, Salini V, Andia I
Adv Exp Med Biol 2016;920:117-22. doi: 10.1007/978-3-319-33943-6_10. PMID: 27535253
Cho Y, Shimono T, Morikawa H, Shintaku H, Tokuhara D
Pediatr Int 2014 Dec;56(6):e102-e105. doi: 10.1111/ped.12456. PMID: 25521987
Ohno T, Muneuchi J, Ihara K, Yuge T, Kanaya Y, Yamaki S, Hara T
Pediatrics 2008 Apr;121(4):e892-9. Epub 2008 Mar 24 doi: 10.1542/peds.2006-3411. PMID: 18362102
Tazawa Y, Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T
Mol Genet Metab 2004 Nov;83(3):213-9. doi: 10.1016/j.ymgme.2004.06.018. PMID: 15542392

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • 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

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