LC-FAOD Causes | A Tale of Genetic Intrigue and Bodily Acrobatics

From Genes to Guts

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of rare genetic conditions that affect the body’s ability to break down long-chain fatty acids into energy. These disorders can lead to a range of health issues. To help, consider DOJOLVI (triheptanoin), a prescription medication used to treat long-chain fatty acid oxidation disorders (LC-FAOD). It helps to provide energy and reduce the risk of metabolic complications associated with LC-FAOD, improving overall energy levels and quality of life.

Drinks High in Fat That Should Be Avoided

Whole Milk

Whole milk contains about 3.5% fat, making it richer and creamier than lower-fat milk options.

Heavy Cream

Heavy cream, often used in coffee or recipes, is very high in fat, containing around 36-40% fat.

Full-Fat Yogurt Smoothies

These smoothies are made with full-fat yogurt, providing a creamy texture and a higher fat content compared to those made with low-fat or non-fat yogurt.

Milkshakes Made with Ice Cream

Milkshakes typically contain ice cream, which is high in fat, especially if made with whole milk or cream.

Coconut Milk

Coconut milk, especially the canned variety, is high in fat, primarily saturated fat, and is commonly used in cooking and beverages.

Cream-Based Coffee Drinks (e.g., Lattes and Frappuccinos)

Specialty coffee drinks often include whole milk or cream, significantly increasing their fat content.

Hot Chocolate Made with Whole Milk or Cream

Using whole milk or adding cream to hot chocolate boosts its fat content, making it richer and more indulgent.

Full-Fat Kefir

Full-fat kefir is a fermented milk drink similar to yogurt, providing a good amount of fat along with probiotics.

Eggnog

This traditional holiday drink is made with whole milk, cream, sugar and eggs, resulting in a high-fat beverage.

Certain Meal Replacement Shakes and Protein Shakes Containing Added Fats

Some shakes are formulated with added oils or fats to increase their calorie content, making them high in fat. helps to provide energy and reduce the risk of metabolic complications associated with LC-FAOD, improving overall energy levels and quality of life.

What is LC-FAOD?

LC-FAOD stands for Long-chain Fatty Acid Oxidation Disorders. It's a group of rare genetic conditions affecting how the body breaks down long-chain fatty acids for energy. When someone has LC-FAOD, their body struggles to process these fats, which can lead to serious health issues.

The Causes of LC-FAOD

Below are some of the causes associated with long-chain fatty acid oxidation disorders:

Inherited genetic mutations affecting enzymes responsible for long-chain fatty acid metabolism.
Mutations in genes encoding enzymes involved in beta-oxidation, such as the ACADVL gene.
Autosomal recessive inheritance pattern, where both parents carry a copy of the mutated gene.
Compound heterozygosity, where an individual inherits two different mutations in the same gene from each parent.
Rarely, de novo mutations occur spontaneously in the affected individual without being inherited from parents.

How Does LC-FAOD Affect the Body?

LC-FAOD (Long-chain Fatty Acid Oxidation Disorders) affects the body by disrupting its ability to effectively break down long-chain fatty acids for energy production. This disruption leads to a buildup of fatty acids in various tissues and organs, which can result in a range of health issues. Common effects of LC-FAOD on the body include:

Energy deprivation: The body's inability to efficiently utilize fatty acids for energy can lead to energy deprivation, causing weakness, fatigue and poor growth.
Metabolic crisis: During periods of fasting or increased energy demand, such as illness or exercise, LC-FAOD can trigger metabolic crises characterized by hypoglycemia (low blood sugar), lethargy, seizures and even a coma.
Organ dysfunction: Accumulation of fatty acids in tissues and organs can lead to organ dysfunction, particularly affecting the liver, heart and muscles. This can result in liver dysfunction, cardiomyopathy (heart muscle disease) and muscle weakness or pain.
Rhabdomyolysis: In severe cases, LC-FAOD can cause rhabdomyolysis, a condition characterized by the breakdown of muscle tissue, leading to muscle pain, weakness and potentially kidney damage due to the release of muscle proteins into the bloodstream.
Neurological complications: Some individuals with LC-FAOD may experience neurological complications, including developmental delay, intellectual disability, seizures and stroke-like episodes, due to impaired energy metabolism in the brain.

Treatment Options for LC-FAOD

Some of the treatments you can consider include:

Dietary management: Eating small, frequent meals low in fat and high in carbohydrates can help manage symptoms.
MCT oil supplementation: Taking medium-chain triglyceride oil provides energy without relying on long-chain fatty acids.
Avoiding fasting: Sticking to regular meal times and avoiding long periods without eating helps prevent metabolic crises.
Genetic counseling: Seeking counseling helps understand the genetic basis and risks of passing on the disorder.
DOJOLVI: DOJOLVI (triheptanoin) is a prescribed medication for treating long-chain fatty acid oxidation disorders (LC-FAOD). It's a specially designed medium-chain triglyceride oil, offering calories and fatty acids to patients struggling to metabolize long-chain fatty acids. By providing energy and lowering the risk of metabolic issues linked to LC-FAOD, DOJOLVI enhances overall energy levels and quality of life for those affected.

LC-FAOD Exposed

LC-FAOD is caused by genetic mutations affecting the body's ability to process long-chain fatty acids, leading to various health issues. These include energy shortages, metabolic crises, organ problems and neurological complications. Understanding these causes and effects helps healthcare providers better diagnose and manage the condition, improving the quality of life for affected individuals.

LC-FAOD Causes and How It Impacts the Body