Sitosterolemia
An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas.
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Top doctors who continously share their opinions on SitosterolemiaDistt. Red Cross Society Bhawan
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SPMC, Bikaner
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BCCL Hospital
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Government Medical College, Bettiah
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Government Medical College, Bettiah
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Trending Cases
What is the treatment of ulcer in angle of both lips again and again? I give tess oint there is recover but it produce again what is cause and treatment?
Dr. Nirmal Shah0 Like1 AnswerA female 36 years, gravida 3 para 2 comes with complaints of headache, loss of sight and is in labour with poor cervical dilatation progress. on admission, the BP is 178/102 with no history of convulsions and magnesium sulphate is given. A LSCS is performed under spinal anesthesia with BP stabilised. she is transferred to ICU for post operative management with BP continuing to increase . After 5 days, a feedback is given that the patient is discharged and gained her sight. What caused the loss of sight?
Dr. Prashant Vedwan1 Like0 Answer