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| X-linked dominant inheritance scenarios for either the mother or father being affected By File:Autosomal dominant - en.svg: Domaina, Angelito7 and SUM1Derivative work: SUM1 - Based off of File:Autosomal dominant - en.svg, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=86165703 |
A resident of Los Angeles, Dr. Mark Paskewitz is the vice president of the National Institute of Clinical Research, Inc., and the former senior director of clinical development at Kyowa Kirin Pharma, Inc. In his role as senior director, Dr. Mark Paskewitz worked on the development of the first drug approved to treat X-linked hypophosphatemia (XLH), a genetic disease that affects the bones.
XLH is an inherited disease that is usually detected in childhood and characterized by low blood levels of phosphate as a result of the abnormal processing of phosphate in the kidneys. An increased rate of phosphate loss in the urine leads to weakened, soft bones throughout the body. Those affected by this condition may have bone and joint pain, short stature, bowed legs, and severe dental pain. However, the severity of the disease varies significantly, as some people with the condition may have ongoing pain and complications, while others have minimal symptoms.
Treatment for XLH typically involves supplementing with high doses of the active form of vitamin D and phosphate. Corrective surgery, dental treatment, and taking growth hormones may also be necessary for treating XLH.
