Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Epimerase Deficiency Galactosemia

System/ConcernEvaluationComment
Constitutional Measurement of height, weight, & head circumference
Neurologic Neurologic evalTo incl assessment of tone
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures & clubfoot
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Feeding/Nutrition Nutrition / feeding team evalTo incl eval of nutritional status & feeding skills
Hepatic Liver function tests 1
Renal Urinalysis 2
  • Incl for non-glucose reducing substances
  • Consider renal imaging, such as renal ultrasound, if renal abnormalities are suspected.
Eyes Ophthalmologic evalTo assess for cataracts
Hearing Audiologic evalAssess for sensorineural hearing loss.
Genetic
counseling 		By genetics professionals 3To inform affected persons & their families re nature, MOI, & implications of epimerase deficiency galactosemia in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

OT = occupational therapy; MOI= mode of inheritance; PT = physical therapy

1.

To include serum AST, ALT, albumin, total protein, total and conjugated bilirubin, prothrombin time, and partial thromboplastin time

2.

One affected person who died in the neonatal period was reported to have large kidneys with intratubular renal calcifications [Dias Costa et al 2017].

3.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Epimerase Deficiency Galactosemia

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