Category: Rare genetic disorders

Congenital disorders of glycosylation (CDG) comprise over 160 rare genetic conditions affecting cellular processes. Understanding the specific dietary needs for congenital disorder of glycosylation is crucial for managing its diverse symptoms, as nutritional therapies are key for certain subtypes.

Transcobalamin II deficiency is a rare, life-threatening autosomal recessive disorder that typically manifests in early infancy. Recognizing the symptoms of transcobalamin II deficiency is crucial for prompt diagnosis and treatment, which can prevent severe, permanent complications, especially neurological damage.

Prader-Willi syndrome (PWS) is considered the most common genetic cause of obesity, resulting from a genetic abnormality on chromosome 15. For individuals with this condition, managing an insatiable appetite, known as hyperphagia, is crucial, and a specific diet is recommended for Prader-Willi syndrome to prevent severe health complications. This requires a carefully planned, low-calorie approach focused on nutrient-dense foods.

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.

Affecting approximately 50-60 individuals worldwide, chylomicron retention disease (CMRD) is a rare genetic disorder that disrupts the body's ability to properly absorb and transport dietary fats. This necessitates a highly specialized diet for chylomicron retention disease, which focuses on limiting long-chain fatty acids while supplementing with easily absorbable nutrients.

According to the National Institutes of Health, classic homocystinuria affects at least 1 in 200,000 to 335,000 people globally, and managing the condition requires a special diet to reduce the buildup of harmful substances in the body. To control this metabolic disorder, understanding what foods should you avoid if you have homocystinuria is critical, as the primary goal is to restrict the amino acid methionine.

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.

Approximately 1 in 10,000 to 20,000 people are affected by osteogenesis imperfecta (OI), a genetic disorder characterized by fragile bones. A critical part of managing this condition involves optimizing nutritional intake to support bone health, with particular emphasis on understanding what vitamins are good for osteogenesis imperfecta.