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Galactosemia

Introduction

Here you’ll find answers to some of the questions that parents often have about this condition. Additional resources are listed at the bottom of the page. Diagnosis and management information can be found in the Galactosemia module, which is written for primary care clinicians but also may be of help to parents and family members. 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)
An overview of the genetics of 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

Developmental Pediatrics

See all Developmental Pediatrics services providers (5) in our database.

Early Intervention Programs

See all Early Intervention Programs services providers (52) in our database.

Nutrition, Metabolic

We currently have no Nutrition, Metabolic service providers listed; search our Services database for related services.

Occupational Therapy, Pediatric

See all Occupational Therapy, Pediatric services providers (42) in our database.

Pediatric Endocrinology

See all Pediatric Endocrinology services providers (2) in our database.

Pediatric Genetic Counseling

See all Pediatric Genetic Counseling services providers (5) in our database.

Pediatric Metabolic Genetics

See all Pediatric Metabolic Genetics services providers (2) in our database.

Pediatric Ophthalmology

See all Pediatric Ophthalmology services providers (8) in our database.

Pediatric Physical Medicine & Rehab

See all Pediatric Physical Medicine & Rehab services providers (8) in our database.

Physical Therapy

See all Physical Therapy services providers (62) in our database.

Speech/Language Therapy

See all Speech/Language Therapy services providers (80) in our database.

For other services related to this condition, browse our Services categories or search our database.

Studies

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

Authors

Compiled and edited by: Alfred Romeo, RN, PhD - 11/2015
Content Last Updated: 12/2015

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.