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.

Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

Last Updated: 12 May 2015

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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: 6 Apr 2015

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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: 29 May 2015

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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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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

http://cfgd.cochrane.org

Last Updated: 12 May 2015

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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

http://galactosemia.org

Last Updated: 6 Apr 2015

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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: 29 May 2015

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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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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 89 free, full-text research articles on human participants. First 3 results:

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.
 

Author(s): Ying Liu, Alpa Sidhu, Lora H Bean, Robert L Conway, Judith L Fridovich-Keil

Journal: Clin. Chim. Acta. 2015 Jun;446():171-4.

 

Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound loss of galactose-1-phosphate uridylyltransferase (GALT). CG is detected by newborn screening (NBS) in many countries; however, conclusive diagnosis can be complex due to broad and overlapping ...

Last Updated: 29 May 2015

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Capillary bedside blood glucose measurement in neonates: missing a diagnosis of galactosemia.
 

Author(s): Mehmet Nuri Özbek, Murat Öcal, Sibel Tanrıverdi, Birsen Baysal, Ahmet Deniz, Kahraman Öncel, Hüseyin Demirbilek

Journal: J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):83-5.

 

A number of factors may lead to inaccuracy in measurement of capillary blood glucose with a glucometer. Measurement of other carbohydrate molecules such as galactose and fructose along with glucose can potentially be a cause of error. We report a newborn patient who was referred to ...

Last Updated: 24 Mar 2015

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White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging.
 

Author(s): Inge Timmers, Hui Zhang, Matteo Bastiani, Bernadette M Jansma, Alard Roebroeck, M Estela Rubio-Gozalbo

Journal: J. Inherit. Metab. Dis.. 2015 Mar;38(2):295-304.

 

White matter abnormalities have been observed in patients with classic galactosemia, an inborn error of galactose metabolism. However, magnetic resonance imaging (MRI) data collected in the past were generally qualitative in nature. Our objective was to investigate white matter microstructure ...

Last Updated: 26 Feb 2015

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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 9 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 Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Intervention and Outcomes in Duarte Galactosemia
 

Status: Recruiting

Condition Summary: Duarte Galactosemia

 

Last Updated: 21 Jul 2016

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Pregnancy Chances in Classic Galactosemia
 

Status: Recruiting

Condition Summary: Galactosemias; Primary Ovarian Insufficiency

 

Last Updated: 15 Apr 2015

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