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

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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).

ACADVL

Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency ​

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CPT1A

Carnitine Palmitoyltransferase I (CPT I) Deficiency

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CPT2

Carnitine Palmitoyltransferase II (CPT II) Deficiency

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HADHA

Long-Chain 3-Hydroxyl-acyl-CoA Dehydrogenase (LCHAD) Deficiency, Trifunctional Protein (TFP) Deficiency

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HADHB
Trifunctional Protein (TFP) Deficiency

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SLC25A20

Carnitine-Acylcarnitine Translocase (CACT) Deficiency

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