Category: Rare diseases

Affecting less than 1 in 35,000 people of Ashkenazi Jewish descent, E3 deficiency—also known as Dihydrolipoamide Dehydrogenase (DLD) deficiency—is an extremely rare inherited metabolic disorder with no established cure. Treatment for this condition focuses on managing symptoms, preventing severe metabolic episodes, and providing supportive care through a combination of dietary adjustments and supplementation.

According to the World Health Organization, zinc deficiency is a global health risk, affecting an estimated two billion people worldwide. While mild deficiency is more common, a severe inherited form exists, which is a lethal genetic disorder caused by deficiency of zinc, known as Acrodermatitis Enteropathica (AE).

An extremely rare autosomal recessive metabolic disorder, dimethylglycine dehydrogenase (DMGDH) deficiency, is the true medical condition behind what is colloquially known as dimethylglycine deficiency. The key characteristic is not a simple nutritional shortfall, but a genetic inability to properly process the amino acid derivative N,N-dimethylglycine (DMG), leading to specific, identifiable symptoms.

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.

Isovaleric aciduria (IVA) affects approximately 1 in 250,000 individuals worldwide, making it a rare inherited metabolic disorder. For those affected, the diet is not merely a recommendation but a foundational part of daily management to prevent life-threatening metabolic crises.

Refsum's disease is a rare inherited metabolic disorder, with cases occurring in roughly 1 in 1,000,000 people, where the body cannot properly break down phytanic acid. The primary and most effective treatment strategy involves a lifelong, strict dietary management plan that limits the intake of this specific fatty acid.

Tarui disease, a rare glycogen storage disorder, affects fewer than 200 people worldwide. A primary recommendation for managing this condition is the adoption of a low-carbohydrate, high-fat diet, which fundamentally alters the body's primary energy source. This dietary shift helps mitigate the severe muscle cramps and exercise intolerance that characterize the disease by bypassing a critical enzymatic defect.

While the World Health Organization recommends limiting daily sodium intake to under 2,000 mg for most adults, for certain medical conditions, a high-sodium diet is medically necessary to help regulate bodily functions.

Affecting an estimated 1 in 50,000 people, sitosterolemia is a rare genetic disorder characterized by the excessive absorption of plant sterols (phytosterols). Understanding what foods are good for sitosterolemia is crucial for managing the condition and mitigating the associated health risks like premature heart disease.

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), also known as Glutaric Aciduria Type II (GA II), is a rare genetic disorder affecting the body's ability to process fats and some proteins. Understanding what is the diet for multiple acyl-CoA dehydrogenase deficiency is crucial for managing this condition and preventing serious metabolic complications.