Answers to questions families often have about caring for their child with galactosemia

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.

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.

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

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].

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.

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. 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.

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.

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 galactos and some children produce galactose as part of their normal metabolism – either situation may contribute to higher-than-normal galactose levels and subsequent problems.