Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with LCHAD/TFP Deficiency

System/ConcernEvaluationComment
Metabolic
decompensation 		Consultation w/metabolic physician/biochemical geneticist & specialist metabolic dietitianConsider transfer to specialist center w/experience in mgmt of inherited metabolic diseases.
  • Blood gas – arterial or venous (e.g., w/i-STAT®), ammonia, lactic acid
  • Glucose, liver transaminases (AST, ALT)
  • Electrolytes w/bicarbonate, BUN, creatinine
  • CK
  • CBC w/differential & addl eval when infection is suspected
Urgent labs to be obtained if an acute metabolic crisis is suspected
Plasma free & total carnitine, plasma acylcarnitine profile, & urine organic acidsTo be obtained during period of acute metabolic decompensation, if possible
General Referral to clinical geneticist familiar w/LCHAD/TFP deficiencyFor implementation of specialized treatment
Cardiology Consider cardiology consultation & echocardiographyFor eval of cardiomyopathy
Neurology Consider neurology consultationFor eval of myopathy & peripheral neuropathy
Ophthalmology Consider ophthalmology consultationFor assessment of vision & retinopathy
Development Developmental assessmentTo incl motor, adaptive, cognitive, & speech/language eval
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of LCHAD/TFP deficiency to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ALT = alanine transaminase; AST = aspartate aminotransferase; BUN = blood urea nitrogen; CBC = complete blood count; CK = creatine kinase; LCHAD = long-chain hydroxyacyl-CoA dehydrogenase; MOI = mode of inheritance; TFP = trifunctional protein

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

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

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