FAOD In Focus

Making Sense of LC-FAOD

Living with a long-chain fatty acid oxidation disorder (LC-FAOD) comes with unique challenges. Staying connected to updated information will help focus your efforts on the best possible care.

LC-FAOD are rare, genetic metabolic disorders that prevent the body from breaking down long-chain fatty acids into energy during metabolism.

You may identify with a certain type of LC-FAOD:

CPT I (carnitine palmitoyltransferase I) deficiency

CAUSE

Mutation in the CPT1A gene; prevents long-chain fatty acids from being transported into the cells’ mitochondria for breakdown

ESTIMATED INCIDENCE

1:750,000 to
1:2,000,000

KEY SIGNS AND SYMPTOMS

Birth to 18 months

liver damage, low blood sugar with low ketones

CACT (carnitine-acylcarnitine translocase) deficiency

CAUSE

Mutation in the SLC25A20 gene; prevents long-chain fatty acids from being transported into the cells’ mitochondria for breakdown

ESTIMATED INCIDENCE

1:750,000 to
1:2,000,000

KEY SIGNS AND SYMPTOMS

Neonatal/infantile presentation

low blood sugar with low ketones, high ammonia levels in blood, enlarged liver, heart muscle damage with or without irregular heartbeat, breathing difficulties, muscle weakness

Later onset:

has been reported with milder symptoms

CPT II (carnitine palmitoyltransferase II) deficiency

CAUSE

Mutation in the CPT2 gene; prevents long-chain fatty acids from being transported into the cells’ mitochondria for breakdown

ESTIMATED INCIDENCE

1:750,000 to
1:2,000,000

KEY SIGNS AND SYMPTOMS

Neonatal/infantile presentation

low blood sugar with low ketones, heart muscle damage

Adolescent/young adult presentation

recurrent muscle breakdown

VLCAD (very long-chain acyl-CoA dehydrogenase) deficiency

CAUSE

Mutation in the ACADVL gene; prevents long-chain fatty acids from being broken down via fatty acid beta-oxidation

ESTIMATED INCIDENCE

1:85,000

KEY SIGNS AND SYMPTOMS

Overall

heart muscle damage at any age

Early childhood presentation

low blood sugar with low ketones, high ammonia levels in blood

Adolescent/adult presentation

recurrent muscle breakdown and myoglobin in the urine, which causes kidney injury

TFP (trifunctional protein) deficiency

CAUSE

Mutations in both the HADHA and HADHB genes, leads to defects in the entire TFP complex. Prevents long-chain fatty acids from being broken down via fatty acid beta-oxidation

ESTIMATED INCIDENCE

1:750,000

KEY SIGNS AND SYMPTOMS

Overall

severe nerve damage, retina damage

Early childhood presentation

similar to LCHAD deficiency but often more severe: low blood sugar with low ketones, high ammonia levels in blood

LCHAD (long-chain 3-hydroxy-acyl-CoA dehydrogenase) deficiency

CAUSE

Mutation in the HADHA gene, which encodes for a subunit of TFP. Prevents long-chain fatty acids from being broken down via fatty acid beta-oxidation

ESTIMATED INCIDENCE

1:250,000

KEY SIGNS AND SYMPTOMS

Overall

skeletal muscle damage with or without recurrent muscle breakdown, nerve damage, retina damage

Early childhood presentation

low blood sugar with low ketones, high ammonia levels in blood

Adolescent/adult presentation

recurrent muscle breakdown and myoglobin in the urine, which causes kidney injury

LC-FAOD educational events from Ultragenyx

Living with an LC-FAOD comes with unique challenges. Learn more about LC-FAOD and connect with the LC-FAOD community by registering for events.

LC-FAOD ARE RARE, BUT YOU ARE NOT ALONE

People who have or are familiar with this rare disease regularly share their experiences. Take advantage of useful resources and support organizations that can help you manage and navigate life with LC-FAOD.

RECOGNIZING THE SIGNS AND SYMPTOMS IS IMPORTANT

The signs and symptoms can vary between different types of LC-FAOD and even within the same type of LC-FAOD.

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