dear doctors Identify the disorder and its enzyme deficiency ??
Albinism Deficiency of Tyrosinase Enzyme. @Dr. Mahmud Patel sir Thanks.
Albinism Also called achromasia. A group of inherited disorders characterised by little or no melanin production. This condition increases the risk of skin cancer. Albinism is a rare, non-contagious, genetically inherited condition which occurs worldwide regardless of ethnicity or gender. It most commonly results in the lack of melanin pigment in the hair, skin and eyes (oculocutaneous albinism), causing vulnerability to sun exposure. This means a child has to inherit two copies of the faulty gene (one from each parent) to have the condition. If both parents carry the gene, there's a 1 in 4 chance that their child will have albinism and a 1 in 2 chance that their child will be a carrier. Carriers don't have albinism but can pass on the faulty gene.
Albinism, def of Tyrosinase enzyme...
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History of white patchy hair with deafness blue eyes decrease in intellectual function Any differentials ??
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5yr old twins with h/o brown discolouration of both eyes with clear tears like discharge for 3 yrs.Started gradually and progressing over the years.N/H/O itching and pus discharge.However they can not see in sunlight.They have got some kind of photophobia.no known allergy.no hx of similar problem in the family.what are the differentials?
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31 yrs male came with chronic history of sob and cough with expectoration; pt is having albinism; planned for lung transplantation ; diagnosis
Dr. Isha Garg1 Like11 Answers - Login to View the image
Oculocutaneous albinism Photophobia Squint UMN features Microcephaly Recurrent bruising Hepatosplenomegaly Left hemothorax and fracture rib following fall from bed INR: Normal Platelets: 4 lacs TLC: 20000 NO fever Differential diagnosis (Other than Battered baby syndrome)
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