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
, 3 Likes
, 10 Answers
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
, 10 Likes
, 14 Answers
365 Views
, 3 Answers
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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Doc Insights10 Likes27 AnswersPlease share your overall clinical experience with the Ibuprofen + Paracetamol combination in treating Paediatric Fever and pain?
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A 57 yrs old male patient c/o sudden vision loss/left side weakness/agitated/fever bodyache *Chief Complaints* Sudden vision loss Left side weakness Unable to walk Agitated urge to pee/poop but nothing comes out when he go Bodyache *History* CVA with left hemisphere 3 yrs back K/c/o HTN/DM *Vitals* BP 150/80 Pulse 68 Spo2 98 *Physical Examination* B/L Pupils dilated Left side weakness Chest -B/L clear P/A- soft no any tenderness or distension CNS -Alert and aware Genitals -Normal *Investigations* Attached *Diagnosis* CVA with HTN/DM ?TIA/Retinal detachment *Management* Medically conservative Kindly suggest
Dr. Manoj Kumar0 Like3 Answers A 29-year-old male presents with chronic low back pain and stiffness, which worsens at rest and improves with activity. He reports morning stiffness lasting more than 30 minutes. Physical examination reveals limited spinal mobility, especially in the lumbar region, and decreased chest expansion. Laboratory tests show elevated inflammatory markers. What is the most likely diagnosis?
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