Table 9.

Recommended Surveillance for Individuals with LCHAD/TFP Deficiency

ManifestationEvaluationFrequency/Comment
Metabolism Nutritional mgmtAt each visit. Frequency of visits is determined by clinical severity. Follow-up interval can be adjusted based on metabolic control. A rough guideline (by age):
  • <1 yr: weekly to monthly
  • 1-7 yrs: every 1-6 mos
  • >7 yrs: every 6-12 mos
Comprehensive fatty acid profile to assess for essential fatty acid deficiency 1Annually
Plasma free & total carnitine, acylcarnitine profile, CK, AST, ALTRecommended frequency (by age):
  • <1 yr: every 3 mos
  • 1-7 yrs: every 3-6 mos
  • >7 yrs: every 6-12 mos
Growth Measurement of head circumference & growthAt each visit throughout childhood
Development Monitoring of developmental milestones
  • Neuropsychological testing using age-appropriate standardized assessment batteries
  • Standardized quality of life assessment tools for affected persons & parents/caregivers
As needed
Cardiomyopathy EKG & echocardiographyAnnually or more frequently for severe presentation
Peripheral neuropathy Neurology evalAnnually
NCV & EMGAs needed
Retinopathy Ophthalmology evalAnnually
ERGEvery 2-3 yrs

ALT = alanine transaminase; AST = aspartate aminotransferase; CK = creatine kinase; NCV = nerve conduction velocity test; EMG = electromyography; ERG = electroretinography; LCHAD = long-chain hydroxyacyl-CoA dehydrogenase; TFP = trifunctional protein

1.

Affected individuals are at risk of developing essential fatty acid deficiency as a result of a diet restricted in long-chain fat.

From: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency

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