Mental retardation hip luxation G6PD variant

Common Name(s)

Mental retardation hip luxation G6PD variant

Mental retardation - Hip Luxation - G6PD variant refers to a form of intellectual disability that is characterized mainly by below-average mental ability, dislocated hips, and problems with an enzyme known as G6PD. Individuals with this form of intellectual disability often have problems with physical movements of many parts of the body. G6PD (Glucose-6-Phosphate Dehydrogenase) is an important enzyme involved in converting glucose into energy used by the body. Patients thus often are more prone to fatigue and low blood counts or anemia. Symptoms of this form of intellectual disability are caused by defects on the X chromosome, meaning males are more prone to having this form of intellectual disability. Like other individuals with intellectual disability, an individual with this condition often has problems with reasoning and solving problems, as well as performing day-to-day tasks. The condition is also often diagnosed during childhood. Doctors diagnose this form of intellectual disability if low levels of G6PD and dislocated hips are observed. Signs like walking and talking late, slow mastering of basic tasks, and having difficulty remembering things may also suggest this condition in children. Treatment is based on a case-by-case basis and depends on the specific needs of the patient. Patients can undergo surgery to treat the dislocated hips. Blood transfusions, iron and other vitamins can also help with G6PD defect-related problems. Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mental retardation hip luxation G6PD variant" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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