Vaidyanathan Subramaniam,  —

X-linked hypophosphatemia (XLH) is a rare, progressive genetic disorder characterized by rickets-like symptoms such as osteomalacia (soft and weak bones), early osteoarthritis, fractures, pain, dental abscesses (buildup of pus in the teeth), and stunted growth. The disease affects multiple organs, such as the bones, muscles, and…

X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by low levels of phosphate in the blood. Since phosphate is an important mineral required for proper bone and tooth development, XLH patients develop rickets-like symptoms, such as osteomalacia (soft and weak bones), early osteoarthritis, fractures, pain, …

X-ray imaging is a commonly used tool in the diagnosis of X-linked hypophosphatemia (XLH), a rare genetic disorder characterized by low phosphate levels in the blood. This article answers some of the frequently asked questions (FAQs) about X-rays and how they can be useful in diagnosing…

X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disease caused by mutations in the PHEX gene. The disease is characterized by low levels of phosphate — an important mineral for the formation of healthy bones and teeth — in the blood. Although there is currently no…

X-linked hypophosphatemia (XLH) is a rare, progressive genetic disease in which excess phosphate is excreted by the kidneys, resulting in low levels of the mineral in the blood. Phosphate is essential for healthy bones and teeth. People with XLH have rickets-like symptoms such as osteomalacia (soft…

Being diagnosed with rare genetic diseases, such as X-linked hypophosphatemia (XLH), can often leave patients and their caregivers worried and overwhelmed. To help alleviate some confusion, we present answers to some of the most frequently asked questions about XLH. What is XLH? XLH is a genetic disorder that occurs…

X-linked hypophosphatemia (XLH) is a rare X-linked genetic disease characterized by low levels of phosphate in the blood, and is caused by a mutation in the PHEX gene. This gene influences the activity of a protein called FGF23, which is responsible for regulating the reabsorption of phosphate…