Table 2.

LCHAD/TFP Deficiency: Frequency of Select Features

Feature~% of Persons w/Feature 1Comment
LCHAD DeficiencyTFP Deficiency
Severe neonatal
presentation 		15%39%Often lethal when assoc w/dilated cardiomyopathy
Hypoketotic
hypoglycemia 		78%40%Common in severe neonatal presentation; precipitated by fasting or illness in intermediate phenotype
Liver
dysfunction 		80%53%↑ liver enzymes, cholestasis, or liver failure during metabolic crisis is common in severe & intermediate phenotypes.
Cardiomyopathy 65%63%Common in severe neonatal presentation; may be present in untreated intermediate or mild phenotype
Skeletal
myopathy 		62%72%Hypotonia, muscle weakness, exercise intolerance, or episodic muscle pain & myoglobinuria; may be isolated finding in mild phenotype
Peripheral
neuropathy 		67%79%Long-term complication present in most surviving persons despite early treatment
Retinopathy 80%12%Long-term complication that may → vision impairment

LCHAD = long-chain hydroxyacyl-CoA dehydrogenase; TFP = trifunctional protein

1.

Frequencies are approximations from data published prior to the implementation of newborn screening (NBS) [den Boer ME et al 2002, den Boer ME et al 2003, Spiekerkoetter et al 2003, Spiekerkoetter et al 2004]. NBS has enabled earlier diagnosis and improved outcomes.

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

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