Tag: Rare diseases

Affecting an extremely limited number of individuals worldwide, congenital atransferrinemia is a very rare genetic disease. The primary cause of atransferrinemia is a specific genetic mutation that disrupts the body's ability to transport iron, leading to a complex and paradoxical set of symptoms involving both a lack of iron delivery and toxic iron accumulation.

Approximately 70% of people with epilepsy have an unknown cause for their condition, highlighting the challenge of diagnosing many disorders. The seemingly specific query 'What is 4D's disease?' is similarly complex, as there is no single illness by that name; instead, the 'Four Ds' is an acronym referring to multiple, distinct medical and psychological frameworks.

While exceedingly rare in humans, a significant lack of manganese can disrupt critical bodily functions and lead to a range of health issues. This vital trace mineral is essential for enzyme activation, antioxidant defense, and proper metabolism of nutrients.

While not a typical vitamin deficiency, a D5 deficiency refers to a genetic condition affecting the dopamine receptor D5 (D5R), which plays a crucial role in cognitive functions like learning and memory. Research, primarily using mouse models, has highlighted the profound neurological consequences of this deficiency, distinguishing it from more common deficiencies.

Rapid and severe weight loss is a key trigger for Superior Mesenteric Artery (SMA) syndrome, caused by the depletion of the protective fat pad around the duodenum. Understanding **how can I gain weight with SMA syndrome?** involves strategic dietary changes and medical guidance to reverse the condition and alleviate symptoms.

The amount of protein a person with Phenylketonuria (PKU) can have is highly individualized and determined by their unique tolerance for phenylalanine, an amino acid found in natural protein. Therefore, understanding how much protein can someone with PKU have requires a personalized approach guided by a metabolic healthcare team.