Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) Treatment & Management

Updated: Nov 12, 2018
  • Author: Gerard T Berry, MD; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

International treatment guidelines for galactosemia were published in 2017. [16]

The mainstay of medical care in the postnatal period is to immediately discontinue ingestion of lactose-containing formula. [16, 51, 52] This ameliorates the acute toxicity associated with the neonatal period but does not prevent all long-term complications. [53, 54]

Clotting abnormalities may be cryptic and require fresh frozen plasma treatments. [16]

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Consultations

Refer children to appropriate language and speech centers to optimize treatment for learning problems.

Neuropsychological testing should be performed, as developmental delay and learning problems are common. [55]

Refer adolescent females to a pediatric endocrinologist and older adolescents and women to a reproductive gynecologist for appropriate treatment of hypergonadotropic hypogonadism and POI. [16]

No standardized treatment for short stature has been established, and the etiology is unknown in many instances. [56]

Because dietary therapy is necessary, refer patients to a dietitian who has experience with metabolic disorders. [57]

Decreased bone mineral density has been detected in a fraction of patients with galactosemia. [58]

Consultation with a biochemical geneticist (ie, metabolic disease specialist) is advisable for diagnostic laboratory evaluation, monitoring, and clinical care for patients with galactosemia. [59]

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Diet

Prescribe a galactose-restricted diet for infants who are galactosemic. Older patients may tolerate lactose better than infants. The restriction of milk intake throughout life is controversial. [6, 40, 41, 60, 61] However, most metabolic specialists support life-long diet therapy. [13, 16]

Totally eliminating galactose is difficult because it is present in a wide variety of foods (eg, infant foods, fruits, vegetables), especially in the macromolecular form. [62]

The authors of this article do not recommend restriction of fruits and vegetables. [62]

Dietary restrictions during pregnancy, as well as prospectively during postnatal life, may have no effect on long-term complications of an affected fetus.

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Further Inpatient Care

During the initial hospitalization for a child with symptomatic severe classic galactosemia, the major concerns are sepsis, bleeding, liver dysfunction, and brain swelling. Treat these conditions as they would be treated in patients who do not have galactosemia.

Immediate and total removal of galactose from the diet is the only specific treatment for a patient with galactosemia that differs from treatments for patients with sepsis or liver dysfunction from other causes.

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