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.

MainRecentTopDoctors

Recent Cases of Hartnup disease

Browse recently discussed Hartnup disease cases by specialists
Concluded Case

PELLGRA DISEASE

10-yr-old boy with autism and with a cardiac defect presented with well-demarcated, erythematous, eroded plaques with d...See More

70 Views

, 3 Likes

, 10 Answers

Concluded answer

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 solution

Top Hartnup disease Doctors on Curofy

Top doctors who continously share their opinions on Hartnup disease
Dharmapuri, Tamil Nadu, India
355 followers

Kasturba Medical College, Manipal

Fage

Kasturba Medical College, Manipal

DVD

User Languages
Speaks English
Jind
269 followers
User Languages
Speaks English, Hindi
Chandrapur
1234 followers
User Languages
Speaks English
kolkata
4374 followers

PGIMER, Chandigarh

MD

User Languages
Speaks Bengali, English, Hindi, Nepali
Agartala
43 followers

Maharaja Gandhi Institute Of Medical Sciences, Sewagram

DCH

User Languages
Speaks Bengali, English, Hindi, Marathi, Tamil

Trending Cases