Table 5.

Recommended Surveillance for Individuals with Generalized or Intermediate Epimerase Deficiency Galactosemia

System/ConcernEvaluationFrequency
Constitutional Measurement of growth parametersAt each visit
Biochemical Assessment of hemolysate gal-1P or urinary galactitol 1, 2At each visit or as indicated by any ongoing concerns or relevant dietary changes
Development Monitor developmental progress & educational needs.At each visit
Musculoskeletal Physical medicine, OT/PT assessment
Eyes Ophthalmology evalAs clinically indicated (assuming the affected person is on a galactose-restricted diet)
Hearing Audiology evalAt least annually in infancy & childhood or as clinically indicated
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

OT = occupational therapy; PT = physical therapy

1.

Especially if the diet is to be normalized

2.

Acceptable levels of gal-1P in GALE deficiency are not known but are estimated from experience with classic galactosemia to be <3.5 mg/100 mL in red blood cells.

From: Epimerase Deficiency Galactosemia

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