Table 5.

Recommended Surveillance for Individuals with Mucolipidosis IV

System/ConcernEvaluationFrequency
Neurologic
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations (e.g., seizures, changes in tone, movement disorders).
At least annually; more frequently if actively managing symptoms
Musculoskeletal Physical medicine, OT/PT assessment of mobility, self-help skillsFrequency dependent on eval & recommendations by physician or PT/OT
Development Monitor developmental progress & educational needs.At least annually; more frequently if actively managing symptoms
Eyes Ophthalmology examAnnually
Feeding Evaluate feeding & growth.At least annually; more frequently if actively managing symptoms
Renal Monitor renal function w/cystatin C levels.
  • Annually, or more frequently if active renal compromise is identified
  • Note: Creatinine levels are not sufficient to monitor renal function as muscle atrophy in MLIV will ↓ baseline levels.
Hematologic
  • CBC
  • Iron studies
Annually

CBC = complete blood count; OT = occupational therapy/therapist; PT = physical therapy/therapist

From: Mucolipidosis IV

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