Tag: Mitochondrial disease

Triheptanoin, marketed as Dojolvi, received FDA approval in 2020 as a groundbreaking treatment for patients with long-chain fatty acid oxidation disorders (LC-FAOD). The primary function of triheptanoin is to serve as an alternative energy substrate, providing a crucial source of calories and fatty acids for individuals unable to metabolize long-chain fats effectively.

Pyruvate dehydrogenase complex deficiency (PDCD) is a rare inherited metabolic disorder, with studies showing it is one of the most common neurodegenerative disorders linked to abnormal mitochondrial metabolism. The diet for pyruvate dehydrogenase complex deficiency, primarily a high-fat, low-carbohydrate ketogenic diet, serves to manage symptoms by providing an alternative energy source for the brain and reducing the buildup of lactic acid.

Mitochondrial diseases are a group of genetic disorders that affect how mitochondria, the powerhouses of cells, produce energy. These conditions can impact various parts of the body, and managing symptoms often involves a multifaceted approach, where dietary considerations may play a role.

Primary coenzyme Q10 deficiency is a rare mitochondrial disorder with a highly variable clinical spectrum that makes predicting its course challenging. The prognosis for CoQ10 deficiency depends critically on the specific genetic cause, age of onset, and promptness of treatment.

Carnitine cycle defects, a group of inherited metabolic disorders, can cause the body to improperly use fat for energy, particularly during fasting. Understanding the specific genetic defects in the carnitine cycle is vital for early diagnosis and effective management to prevent severe and life-threatening complications.

In 2007, a study from the University of Alberta sparked massive interest in DCA (dichloroacetate), a compound shown to kill cancer cells in laboratory studies. This attention led many people to mistake the investigational chemical for a legitimate health product, asking, "what is a DCA supplement?" In reality, dichloroacetate is an unapproved, unregulated, and potentially dangerous chemical not intended for use as a dietary supplement.

Citric acid is not a vitamin, and a dietary deficiency disease does not exist in the traditional sense. Instead, rare genetic conditions that disrupt the body's ability to properly utilize or transport citrate, like SLC13A5 citrate transporter disorder, cause severe metabolic and neurological problems.

Coenzyme Q10 (CoQ10) deficiency is a rare but treatable condition that can severely impact cellular energy production and function. For those diagnosed, effective treatment hinges on targeted, high-dose oral CoQ10 supplementation to manage symptoms and slow disease progression.

Genetic defects in the CoQ10 biosynthesis pathway can lead to primary Coenzyme Q10 (CoQ10) deficiency, a rare and clinically heterogeneous condition. This shortage of the crucial coenzyme impairs cellular energy production and increases oxidative stress, contributing to a wide range of diseases affecting major organs, including the brain, heart, and kidneys.

Leigh syndrome is a rare, severe neurological disorder that affects energy metabolism, with most patients unfortunately passing away within a few years of diagnosis. While there is no cure, a specialized nutritional approach is a crucial component of symptomatic management, with the specific dietary regimen tailored to the underlying genetic cause of the disease. Understanding **what is the diet for Leigh syndrome** is essential for providing supportive care.