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Galactosemia

Introduction

The Questions and Answers that follow aim to provide an introduction to galactosemia for parents and other family members. Following those, we offer links to selected resources for more information and support and a list of valuable services.
More information about many topics relevant to children with galactosemia and many other chronic conditions and their families can be found in the left menu. Detailed information aimed at primary care doctors can be found in our Galactosemia module. Information can also be found in the Galactosemia Newborn Screening Page.

What is galactosemia and what causes it?

Galactosemia is a genetic disorder caused by the lack of three enzymes that processes galactose which is found in many foods and is produced when lactose is split by lactase into glucose and galactose. There are four different types including classic galactosemia (type I), Duarte galactosemia (mild), galactokinase 1 deficiency (GALK or type II), and UDP-galactose-4-epimerase deficiency (GALE or type III). Symptoms of galactosemia are the result of inadequate energy production (due to lack of conversion to glucose) and accumulation of galactose and its metabolites.

What are the symptoms of galactosemia?

For classic galactosemia, symptoms develop shortly after starting to ingest milk or other lactose-containing foods. Initial signs/symptoms may include poor feeding, vomiting, diarrhea, jaundice, bleeding tendencies, lethargy, abdominal distension with liver swelling, and increased risk of sepsis (a reaction from a blood infection). Later symptoms can include liver failure, cataracts, and brain damage.

How is it diagnosed?

Diagnosis is made by biochemical testing with confirmation by genetic testing.

What is the prognosis?

Treated individuals usually have near normal life expectancies, but report a lower quality of life than individuals who have been treated for phenylketonuria, another condition that requires life-long dietary restrictions. Individuals with galactosemia, despite adequate adherence to a galactose-restricted diet, may have intellectual disability, speech and motor delays, cataracts, growth problems, ataxia, and hypogonadotropic hypogonadotropic. See Hypogonadotropic Hypogonadism (GeneReviews), [Coss: 2013], [Hoffmann: 2012], and [Bosch: 2009].

What is the risk for other family members or future babies?

Because this is an autosomal recessive condition, there is often no family history. Siblings of children with galactosemia should be screened either prenatally or at birth. Lactose-containing substances, including breast milk, should not be given until results are available.

What treatments/therapies/medications are recommended or available?

Infants will be placed on a lactose-free diet (no breast-milk, soy-based formula). Adherence to the diet should be life-long. Hidden sources of lactose in foods may include whey, milk solids, and dry milk powder, as well as prepared foods, such as macaroni and cheese, ice-cream, and creamed vegetables. See Lactose-Free Diet Guidelines (Sutter Health). The child will need regular screening for complications, periodic followups with metabolic genetics, and consultation with a pediatric endocrinologist. Occupational, physical, and speech therapy may be needed. All children who test positive for classic galactosemia should be referred for Early Intervention Part C Program evaluation and, if indicated, treatment.

How will my child and our family be impacted?

Despite even rigorous galactose avoidance, individuals may still have symptoms. Support from other families who are experiencing the same issues may be helpful - see information below for support groups. Your metabolic genetics clinic may also have resources that may be helpful.

My daughter was diagnosed when she was 2 days of age and we have always avoided galactose. She struggles in school however, and with her speech. Why is she not doing better, having always strictly followed the diet?

Individuals with galactosemia are often developmentally delayed, even when families have strictly adhered to the galactose free diet. Some children may recieve galactose in foods that are not expected to contain galactose (Lactose-Free Diet Guidelines (Sutter Health)) and some children produce galactose as part of their normal metabolism – either situation may contribute to higher-than-normal galactose levels and subsequent problems.

Resources

Information & Support

Where can I go for further information?

For Parents and Patients

Support

Galactosemia Foundation
Provides information about galactosemia and facilitates networking among families, clinicians, and researchers.

General

Galactosemia (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.

What is Galactosemia? (GSLC)
A brief educational overview of single gene disorders that includes galactosemia; Genetic Science Learning Center at the University of Utah.

Galactosemia Tutorial for Parents (English and Spanish)
Tutorials on congenital conditions; Patient Education Institute, Iowa Department of Health's Center for Congenital and Inherited Disorders.

Galactosemia Information (UDOH)
Detailed newsletter and family education pages; Utah Newborn Screening Program, Utah Department of Health.

Galactosemia Parent Info Sheet (Nebraska Newborn Screening Program) (PDF Document 28 KB)
Single-page information sheet for parents whose child has a positive screening test; Nebraska Dept. of Health and Human Services.

Resources for Galactosemia (Disease InfoSearch)
Compilation of information, articles, research, case studies, and genetics links; from Genetic Alliance.

Lactose-Free Diet Guidelines (Sutter Health)
A comprehensive guide to dietary restrictions needed to avoid lactose.

Services for Patients & Families in Utah (UT)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Studies

Studies of Galactosemia (clinicaltrials.gov)
Current listings of registered studies of galactosemia; sponsored by the National Institutes of Health.

Authors & Reviewers

Initial publication: February 2014; last update/revision: December 2015
Current Authors and Reviewers:

Page Bibliography

Bosch AM, Maurice-Stam H, Wijburg FA, Grootenhuis MA.
Remarkable differences: the course of life of young adults with galactosaemia and PKU.
J Inherit Metab Dis. 2009;32(6):706-12. PubMed abstract
Investigates the course of life and the social demographical outcomes in young adults with galactosaemia and compares them with the general population and with PKU patients.

Coss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, Crushell E, Knerr I, Monavari AA, Treacy EP.
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment.
J Inherit Metab Dis. 2013;36(1):21-7. PubMed abstract

Hoffmann B, Dragano N, Schweitzer-Krantz S.
Living situation, occupation and health-related quality of life in adult patients with classic galactosemia.
J Inherit Metab Dis. 2012. PubMed abstract
Evaluates psychosocial, educational, and occupational outcome as well as health-related quality of life in adult German patients with galactosemia. Compares information with data from patients with phenylketonuria as well as the general German population.