Table 4.

Lathosterolosis: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Eyes Ophthalmology evalTo assess visual acuity & for cataracts
Liver
  • Liver enzymes: ALT, ALP, & GGT
  • Liver ultrasound
  • Liver FibroScan®
To assess liver function & for liver fibrosis
Plasma sterol profilePrior to starting simvastatin
Genitourinary anomalies
  • Clinical exam for genitourinary anomalies
  • Renal ultrasound
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of lathosterolosis to facilitate medical & personal decision making
Family support
& resources 		By clinicians, wider care team, & family support organizationsAssessment of family & social structure to determine need for:

ALP = alkaline phosphatase; ALT = alanine aminotransferase; GGT = gamma-glutamyl transferase; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Lathosterolosis

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