Table 7.

Recommended Evaluations Following Initial Diagnosis of Classic Galactosemia and Clinical Variant Galactosemia

EvaluationComment
Consultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian 1
  • Transfer to specialist center w/experience in mgmt of inherited metabolic diseases (strongly recommended)
  • Consider short hospitalization at a center of expertise for inherited metabolic conditions to provide caregivers w/detailed education (natural history, maintenance & emergency treatment, prognosis).
  • Measurement of erythrocyte galactose-1-phoshate concentration & urinary galactitol as baseline for monitoring of treatment (See Table 8.)
Gastroenterology / nutrition / feeding team eval To incl eval of feeding ability & nutritional status
Eval for hepatocellular disease 2 Particularly in affected persons w/late-treated disease who may be at risk for cirrhosis
Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Consultation w/neurologist 3
  • Consider EEG if seizures are a concern.
  • Consider brain MRI, as needed.
Consultation w/ophthalmologist Incl slit lamp exam for cataracts
Infectious disease Low threshold for eval of sepsis/meningitis in symptomatic newborns
Consultation w/psychologist &/or social worker To ensure understanding of diagnosis & assess parental / affected person's coping skills & resources
Consider assessment for ovarian dysfunction 4 Depending on age, measurements of gonadotropins in infancy may not be predictive of future ovarian function.
Genetic counseling by genetics professionals 5 To inform affected persons & families re nature, MOI, & implications of classic galactosemia & clinical variant galactosemia to facilitate medical & personal decision making

MOI = mode of inheritance

1.

After a new diagnosis of classic galactosemia or clinical variant galactosemia in a child, the closest hospital and local pediatrician should also be informed.

2.

Assess liver function tests and coagulation factors; obtain liver ultrasound.

3.

Consultation with a neurologist and obtaining a brain MRI is very important in establishing the nature of any neurologic deficits and the corresponding brain lesions.

4.

Measurement of follicle-stimulating hormone and luteinizing hormone during minipuberty (between 2 weeks and 3 months of life) may provide indications of future gonadal health. While controversial, preservation of ovarian tissue has been proposed as a treatment option for POI [Mamsen et al 2018].

5.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Classic Galactosemia and Clinical Variant Galactosemia

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