Rare Disease Genes

Home » LC-FAOD

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 Figure 1 from reference 3.

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

Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Introduction

ACADVL

CPT1A

CPT2

HADHA

HADHB

SLC25A20

Give us a moment while we fetch the data.