Category: Metabolic 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.

Hartnup disease is a rare inherited disorder of amino acid metabolism that directly impacts the body's nutrient processing, which answers the question: which vitamin is deficient in Hartnup disease? The condition is caused by a genetic defect that impairs the absorption and reabsorption of neutral amino acids, especially tryptophan.

Affecting approximately 1 in 50,000 to 100,000 individuals in Caucasian populations, adenine deficiency is a rare metabolic disorder that primarily impacts the kidneys. Caused by mutations in the *APRT* gene, this inherited condition disrupts adenine metabolism, leading to the accumulation of a toxic byproduct that can cause severe health problems if left untreated.

According to the National Human Genome Research Institute, phenylketonuria (PKU) is a rare inherited disorder that affects approximately 1 in 10,000 to 15,000 babies born in the United States. It is the most well-known example of a rare disease that can't have protein in the conventional sense, as it involves the body's inability to metabolize a specific amino acid found in protein.

According to the Cleveland Clinic, Phenylketonuria (PKU) is a rare genetic disorder where the body cannot properly break down the amino acid phenylalanine, which is found in proteins. For individuals with PKU and other metabolic conditions, it's not that you can't have protein at all, but that you must severely restrict its intake to prevent a dangerous buildup of toxic substances. This strict dietary management is crucial for preventing severe health complications, including brain damage.

In 1989, over 1,500 cases of Eosinophilia-Myalgia Syndrome (EMS) were reported to the CDC, linking the rare and severe condition to contaminated L-tryptophan supplements, which shed light on what is the disease caused by tryptophan. While pure, dietary tryptophan is generally safe, several distinct medical conditions are linked to its metabolism or intake, from genetic disorders to contamination-related syndromes.

According to the National Institutes of Health, while vitamin D deficiency is the most frequent cause globally, rickets can also be triggered by a complex array of genetic and metabolic conditions. Understanding which disease causes rickets is critical for proper diagnosis and effective treatment, as the underlying cause dictates the appropriate course of action.

For decades, high doses of vitamin C were a common recommendation for managing alkaptonuria, a rare genetic disorder affecting tyrosine metabolism. However, recent research and clinical experience suggest its long-term clinical efficacy is unproven, shifting the focus to more modern therapeutic approaches.

The Centers for Disease Control and Prevention reports that over 40% of American adults are affected by obesity, a chronic disease that is the most common answer to the question, **what is a fat disease called**. However, it's crucial to understand that numerous other, distinct conditions are also defined by abnormal fat accumulation or distribution, each with different causes and treatments.

Alkaptonuria is a rare metabolic disorder affecting approximately 1 in 250,000 people globally. Proper dietary management is critical to address what should be restricted in alkaptonuria, focusing on the metabolism of certain amino acids.