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LC-FAOD

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Introduction

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare inborn errors of metabolism leading to serious consequences due to inability to convert long-chain fat into energy (1). LC-FAOD nuclear genes encode mitochondrial proteins necessary for energy production. There are 6 enzyme deficiencies associated with LC-FAOD

Transport of fatty acids into cells and the fatty acid breakdown are necessary for energy production when sugar, or glucose, levels are low. Without this energy supply, people with LC-FAOD may have symptoms that include, but are not limited to muscle pain, muscle weakness, low blood sugar, and fatigue (2).

Stylized figure adapted from on Figure 1 from reference

Gene	Disorder(s)
ACADVL	Very long chain Acyl-CoA dehydrogenase (VLCAD) deficiency
CPT1A	Carnitine palmitoyltransferase type I (CPT I) deficiency
CPT2	Carnitine palmitoyltransferase type II (CPT II) deficiency
HADHA	Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency or TFP* deficiency
HADHB	Trifunctional protein deficiency (TFP*) deficiency
SLC25A20	Carnitine-acylcarnitine translocase (CACT) deficiency

Introduction

ACADVL

CPT1A

CPT2

HADHA

HADHB

SLC25A20

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