Table 6.

Recommended Surveillance for Individuals with PMM2-CDG

System/ConcernEvaluationFrequency
Feeding/Growth
  • Measurement of growth parameters
  • Eval of nutritional status & safety of oral intake
At each visit
Neurology
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations incl seizures, changes in tone, movement disorders.
Development Monitor developmental progress & educational needs.
Eyes

Ophthalmology exam

Every 1-2 yrs &/or as needed
Cardiovascular

Cardiology assessment

As needed
Liver

AST, ALT, & albumin
  • Annually until normalization
  • Those w/chronic ↑ of transaminases, at risk for fibrosis, may need noninvasive elastography.
Liver ultrasoundEvery 3-5 yrs
Endocrine
  • Height assessment
  • TSH & free T4
  • Glucose
  • Calcium, magnesium, phosphate
Every 1-2 yrs &/or as needed
Assess gonadal function at pubertal age incl Tanner stage, growth velocity, bone age, FSH, LH, estradiol in females & testosterone & sex hormone-binding globulin in malesAs recommended by endocrinologist
Renal
  • Blood pressure
  • Urine dipstick for proteinuria
  • Serum creatinine
Every 1-2 yrs &/or as needed
Multicystic kidneys can be followed conservatively.
Musculoskeletal Monitor for osteopenia/osteoporosisEvery 1-2 yrs &/or as needed
DXA scanEvery 3-5 yrs starting in adolescence
Orthopedist assessment when scoliosis becomes evident
Immunology Complete blood count & differentialEvery 1-2 yrs
Hematologic Assessment of bleeding & clotting parameters by hematologist incl prothrombin time, protein C, protein S, antithrombin III, factor IX, & factor XI
  • Annually &/or as needed
  • Consultation at time of surgery
  • If prothrombin time is prolonged, factors II, V, VII, VIII & X should be measured.

ALT = alanine transaminase AST = aspartate transaminase; DXA = dual-energy x-ray absorptiometry; T4 = thyroxine; TSH = thyroid-stimulating hormone

From: PMM2-CDG

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