X-linked hypophosphatemia

X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by low levels of phosphate in the blood. Phosphate is a mineral that is essential for the formation and growth of bones, and for the body's energy production and use.

Pronunciation

The term is pronounced as ex-linked hy-po-phos-pha-te-mia.

Etymology

The term X-linked hypophosphatemia is derived from its genetic origin and its main symptom. X-linked refers to the fact that the disorder is caused by a mutation on the X chromosome. Hypophosphatemia is a combination of the Greek words hypo (meaning low), phosphat (referring to phosphate), and emia (meaning in the blood).

Symptoms

The main symptom of XLH is rickets, a condition that causes soft, weak bones in children. Other symptoms can include bone pain, dental abscesses, and short stature.

Causes

XLH is caused by mutations in the PHEX gene, which is located on the X chromosome. This gene is involved in regulating the levels of phosphate in the body.

Diagnosis

Diagnosis of XLH is based on the clinical symptoms, a blood test showing low levels of phosphate, and genetic testing to identify a mutation in the PHEX gene.

Treatment

Treatment for XLH typically involves taking phosphate supplements and a form of vitamin D called calcitriol. This helps to increase the levels of phosphate in the body and promote bone growth.

Related Terms

• Phosphate
• PHEX gene
• Rickets
• X chromosome
• Genetic disorder
• Mutation

External links

• Medical encyclopedia article on X-linked hypophosphatemia
• Wikipedia's article - X-linked hypophosphatemia

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