Hartnup disease
An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.
Recent Cases of Hartnup disease
Browse recently discussed Hartnup disease cases by specialists70 Views
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It's PELLGRA... Measure the serum niacin levels confirm the diagnosis... Niacin is contained in significant amounts in animal-based foods such as poultry, beef, and fish, as well as plant-based foods such as peanuts, green peas, brown rice,...
Top Cases of Hartnup disease
Selected by editors, top cases are known for unique problem or best solution695 Views
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Top Hartnup disease Doctors on Curofy
Top doctors who continously share their opinions on Hartnup diseaseKasturba Medical College, Manipal
Fage
Kasturba Medical College, Manipal
DVD
PGIMER, Chandigarh
MD
Maharaja Gandhi Institute Of Medical Sciences, Sewagram
DCH
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M.62yrs. Pain & stiffness neck 1 year.
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This is a case of my brother - A 47-year-old male complains of pain in his right wrist while lifting anything with hand or twisting the wrist even a little bit. Pain occurs occasionally on rest. He also has pain in his both shoulders. Radiographic images of wrist are attached. Can you diagnose the cause? Let me know if you have any query.
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Mch.9yrs. Unable for pronation and supination and rotation of left forearm.
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