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:
CAUSE
Mutation in the CPT1A gene; prevents long-chain fatty acids from being transported into the cells’ mitochondria for breakdown
ESTIMATED INCIDENCE
KEY SIGNS AND SYMPTOMS
Birth to 18 months
liver damage, low blood sugar with low ketones
CAUSE
Mutation in the SLC25A20 gene; prevents long-chain fatty acids from being transported into the cells’ mitochondria for breakdown
ESTIMATED INCIDENCE
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
CAUSE
Mutation in the CPT2 gene; prevents long-chain fatty acids from being transported into the cells’ mitochondria for breakdown
ESTIMATED INCIDENCE
KEY SIGNS AND SYMPTOMS
Neonatal/infantile presentation
low blood sugar with low ketones, heart muscle damage
Adolescent/young adult presentation
recurrent muscle breakdown
CAUSE
Mutation in the ACADVL gene; prevents long-chain fatty acids from being broken down via fatty acid beta-oxidation
ESTIMATED INCIDENCE
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
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
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
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
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
Find a metabolic clinic.
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.
Find a metabolic clinic.
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