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X-Linked Hypophosphatemia

What are the symptoms?

It is characterised by low phosphorus in the blood (hypophosphatemia) associated with high phosphate excretion in the urine (hyperphosphaturia), and symptoms of rickets (bowed or knock-kneed legs). Dental problems, particularly unexplained abscesses in primary teeth, are also a common sign of the disease.

View Background Background  |  How is it diagnosed? View How is it diagnosed?

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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