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X-Linked Hypophosphatemia

How is it diagnosed?

Typically, if there is no apparent family history, parents become concerned when a toddler's legs appear bowed. Diagnosis can be difficult; usually blood tests show an elevated alkaline phosphatase and a profoundly low phosphorus level.

View What are the symptoms? What are the symptoms?  |  How is it treated? View How is it treated?

Medical text written October 2000 by Contact a Family. Approved October 2000 by Dr A Morris. Last reviewed August 2005 by Dr A Morris, Consultant Paediatrician with Special Interest in Metabolic disease, Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK.

 

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