Galactosemia

Common Name(s)

Galactosemia

Galactosemia, which means “galactose in the blood”, is a rare inherited condition. People with galactosemia have problems digesting a type of sugar called galactose from the food they eat. Because they cannot break galactose down properly, it builds up in their blood. Galactose is found in milk and all foods that contain milk. Galactosemia occurs when an enzyme, called ‘galactose-1-phosphate uridyl transferase’ (GALT), is either missing or not working properly. Without enough GALT enzyme activity, galactose cannot be changed to glucose so it builds up in the blood in large amounts.

There are different types of galactosemia: classic galactosemia (also known as type I and is the most common and most severe form of the condition), galactosemia type II (also called galactokinase deficiency), and type III (also called galactose epimerase deficiency). The different types of galactosemia is caused by mutations in the GALT, GALE, and GALK1 genes and is inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Galactosemia" for support, advocacy or research.

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Galactosemia Foundation

To educate, support and provide advocacy for those affected by Galactosemia. To network with professionals to inspire the treatment and advanced research of Galactosemia

Last Updated: 28 Dec 2012

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Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

Last Updated: 2 Mar 2013

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Rachel's Well

Rachel's Well in an innovative, multi-disciplinary non-profit organization committed to increaseing women's health research and education, particularly around the issues of menstrual health and primary ovarian insufficiency (POI).

Last Updated: 5 May 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Galactosemia" for support, advocacy or research.

Logo
Galactosemia Foundation

To educate, support and provide advocacy for those affected by Galactosemia. To network with professionals to inspire the treatment and advanced research of Galactosemia

http://galactosemia.org

Last Updated: 28 Dec 2012

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Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

http://www.go-ipad.org

Last Updated: 2 Mar 2013

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Rachel's Well

Rachel's Well in an innovative, multi-disciplinary non-profit organization committed to increaseing women's health research and education, particularly around the issues of menstrual health and primary ovarian insufficiency (POI).

http://www.rachelswell.org/

Last Updated: 5 May 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Galactosemia" returned 75 free, full-text research articles on human participants. First 3 results:

Modifiers of ovarian function in girls and women with classic galactosemia.
 

Author(s): Jessica B Spencer, Jennifer R Badik, Emily L Ryan, Tyler J Gleason, K Alaine Broadaway, Michael P Epstein, Judith L Fridovich-Keil

Journal: J. Clin. Endocrinol. Metab.. 2013 Jul;98(7):E1257-65.

 

Classic galactosemia is a potentially lethal genetic disorder resulting from profound impairment of galactose-1P uridylyltransferase (GALT). More than 80% of girls and women with classic galactosemia experience primary or premature ovarian insufficiency despite neonatal diagnosis ...

Last Updated: 9 Jul 2013

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Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
 

Author(s): Thomas J McCorvie, Tyler J Gleason, Judith L Fridovich-Keil, David J Timson

Journal: Biochim. Biophys. Acta. 2013 Aug;1832(8):1279-93.

 

Type I galactosemia is a genetic disorder that is caused by the impairment of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12). Although a large number of mutations have been detected through genetic screening of the human GALT (hGALT) locus, for many it is not known ...

Last Updated: 10 Jun 2013

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From mind to mouth: event related potentials of sentence production in classic galactosemia.
 

Author(s): Inge Timmers, Bernadette M Jansma, M Estela Rubio-Gozalbo

Journal: PLoS ONE. 2012 ;7(12):e52826.

 

Patients with classic galactosemia, an inborn error of metabolism, have speech and language production impairments. Past research primarily focused on speech (motor) problems, but these cannot solely explain the language impairments. Which specific deficits contribute to the impairments ...

Last Updated: 9 Jan 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Galactosemia" returned 6 free, full-text review articles on human participants. First 3 results:

Fertility preservation in female classic galactosemia patients.
 

Author(s): Britt van Erven, Cynthia S Gubbels, Ron J van Golde, Gerard A Dunselman, Josien G Derhaag, Guido de Wert, Joep P Geraedts, Annet M Bosch, Eileen P Treacy, Corrine K Welt, Gerard T Berry, M Estela Rubio-Gozalbo

Journal:

 

Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, ...

Last Updated: 24 Jul 2013

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[Effects of elimination diets on bone metabolism in children and adolescents with phenylketonuria, galactosemia and celiac disease].
 

Author(s): Joanna Gajewska, Jadwiga Ambroszkiewicz, Magdalena Chełchowska, Teresa Laskowska-Klita

Journal: Med Wieku Rozwoj. ;16(1):61-9.

 

Phenylketonuria, galactosemia and celiac disease are disorders in which elimination diets are the only known therapy, which reverses many clinical manifestations of acute phase in the patients. Unfortunately, most of them develop long-term complications, including bone turnover impairment ...

Last Updated: 20 Apr 2012

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Innovative therapy for Classic Galactosemia - tale of two HTS.
 

Author(s): M Tang, S I Odejinmi, H Vankayalapati, K J Wierenga, K Lai

Journal: Mol. Genet. Metab.. 2012 Jan;105(1):44-55.

 

Classic Galactosemia is an autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridylyltransferase (GALT), one of the key enzymes in the Leloir pathway of galactose metabolism. While the neonatal morbidity and mortality of the disease are now mostly prevented ...

Last Updated: 9 Jan 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pregnancy Chances in Classic Galactosemia
 

Status: Recruiting

Condition Summary: Galactosemias; Primary Ovarian Insufficiency

 

Last Updated: 17 Mar 2014

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