Table of Contents
- Overview
- Symptoms
- Treatment
- Prevention
- Images
Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency
Treatment
People with this condition must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer.
Infants can be fed with:
- Soy formula
- Meat-based formula or Nutramigen (a
protein hydrolysate formula) - Another lactose-free formula
Calcium supplements are recommended.
Support Groups
Parents of Galactosemic Children, Inc.
Expectations (prognosis)
People who get an early diagnosis and strictly avoid milk products can live a relatively normal life. However, mild intellectual impairment may develop, even in people who avoid galactose.
Complications
Cataracts -
Cirrhosis of the liver - Death (if there is galactose in the diet)
- Delayed speech development
- Irregular menstrual periods, reduced function of ovaries leading to ovarian failure
Mental retardation - Severe infection with bacteria (E. coli sepsis)
- Tremors and uncontrollable motor functions
Calling your health care provider
Call your health care provider if:
- Your infant has a combination of galactosemia symptoms
- You have a family history of galactosemia and are considering having children
Images
Previous Section
Review Date: 04/15/2009
Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's
Hospital of Philadelphia, Philadelphia, PA. Review provided by
VeriMed Healthcare Network (3/13/2006). Also reviewed by David
Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)
