Tag: Rare disease

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.

Phenylketonuria (PKU) is a rare genetic disorder affecting how the body processes phenylalanine, an amino acid. Individuals with PKU must adhere to a strict, lifelong, low-phenylalanine diet.

While extremely rare, affecting as few as one in a million individuals, lipodystrophy is the medical term for a deficiency or abnormal distribution of fat. This complex condition can be genetic or acquired, leading to severe metabolic complications and systemic health issues.

According to the National Institutes of Health, phenylketonuria (PKU) is an inherited metabolic disorder affecting approximately 1 in every 10,000 to 15,000 newborns. The primary and lifelong treatment for this condition is a strict dietary intervention for PKU, which focuses on severely limiting the intake of the amino acid phenylalanine to prevent serious health complications.

While dietary deficiency is extremely rare in healthy individuals, one specific and severe disease due to lack of vitamin E is Ataxia with Vitamin E Deficiency (AVED), a rare genetic disorder. This condition impairs the body's ability to properly use the vitamin, leading to progressive neurological problems affecting movement and coordination.

Affecting approximately one in a million people, Adult Refsum disease is a rare metabolic disorder that necessitates a specific eating plan. Understanding what is the Refsum diet for adults is crucial for managing this inherited condition and mitigating the accumulation of harmful phytanic acid in the body.

Creatine deficiency syndromes are a group of rare, inherited metabolic disorders that affect creatine synthesis and transport. While many associate low creatine levels with diet or muscle mass, true genetic creatine deficiency is not a common condition. The prevalence varies by type, but all are considered rare, with some having been reported in fewer than 20 cases worldwide.

Initially developed between 1944 and 1962, Hydroxyethyl starch (HES) was once used for treating low blood volume, but its clinical applications are now heavily restricted in many regions due to serious adverse effects. This article clarifies the distinction between Hydroxyethyl starch and another medical condition, Hypereosinophilic Syndrome, also abbreviated as HES.

Affecting approximately 1 in 1,000,000 people, lipoprotein lipase (LPL) deficiency is a rare genetic disorder that severely disrupts normal fat metabolism. The characteristic LPL deficiency lipid profile is marked by extremely high triglyceride levels and the accumulation of chylomicrons, leading to a milky appearance of the blood.

Affecting approximately 1 in 35,000 newborns, urea cycle disorders (UCDs) are one example of a group of inherited metabolic conditions responsible for what is colloquially known as when someone can't eat protein. There is no single universal term, as this difficulty stems from several rare genetic diseases that impair the body's ability to process specific amino acids, the building blocks of protein.