- What is galactosemia and what causes it?
- What are the symptoms of galactosemia?
- How is it diagnosed?
- What is the prognosis?
- What is the risk for other family members or future babies?
- What treatments/therapies/medications are recommended or available?
- How will my child and our family be impacted?
- 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?
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?
Provides information about galactosemia and facilitates networking among families, clinicians, and researchers.
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) ( 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.
See all Developmental Pediatrics services providers (5) in our database.
See all Early Intervention Programs services providers (54) in our database.
We currently have no Nutrition, Metabolic service providers listed; search our Services database for related services.
See all Occupational Therapy, Pediatric services providers (41) in our database.
See all Pediatric Endocrinology services providers (2) in our database.
See all Pediatric Genetic Counseling services providers (5) in our database.
See all Pediatric Metabolic Genetics services providers (2) in our database.
See all Pediatric Ophthalmology services providers (8) in our database.
See all Pediatric Physical Medicine & Rehab services providers (9) in our database.
See all Physical Therapy services providers (61) in our database.
See all Speech/Language Therapy services providers (79) in our database.
For other services related to this condition, browse our Services categories or search our database.
Studies of Galactosemia (clinicaltrials.gov)
Current listings of registered studies of galactosemia; sponsored by the National Institutes of Health.
|Compiled and edited by:||Alfred Romeo, RN, PhD - 11/2015|
|Content Last Updated:||12/2015|
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.