The case of a woman diagnosed with X-linked hypophosphatemia (XLH) relatively late in life — after the condition had already taken a substantial toll on her physical health and quality of life — highlights the importance of early diagnosis and physician awareness about the disorder, researchers say. The case…

A newly identified mutation is the probable cause of X-linked hypophosphatemia (XLH) in a young girl, according to recent case report. The study, “X-linked hypophosphatemic rickets: a new mutation,” was published in the Brazilian Journal of Nephrology. XLH is caused by mutations in the gene …

A Chinese man and members of his family carry a previously unknown mutation that caused X-linked hypophosphatemia (XLH), according to a recently published case report.  The study, “A novel c.2179T>C mutation blocked the intracellular transport of…

A new technique of osteotomy — a surgery in which bone is cut to allow repositioning — may be an effective approach to correct severe bowed legs in people with X-linked hypophosphatemia (XLH), a case report suggests. The report also highlighted the importance of early XLH diagnosis to…

Researchers found a new mutation in the PHEX gene that causes X-linked hypophosphatemia (XLH) in a Japanese family, according to a case report. Titled “Phenotypes of a family with XLH with a novel PHEX mutation,” the report was published in the journal Human Genome…

Identifying and treating X‐linked hypophosphatemia (XLH) early is key to improving quality of life for people with the disorder, particularly in developing countries, a case report shows. The report, detailing a child in Columbia with this disease, also highlights the difficulties facing doctors and patients with rare disorders in poorer…

A Chinese patient has developed the first known case of X-linked hypophosphatemia (XLH) due to mutations in both the PHEX and NPR2 genes, a study says. The study, “Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation,” was published in the Journal of…