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.

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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

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, 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

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Top Hartnup disease Doctors on Curofy

Top doctors who continously share their opinions on Hartnup disease
Jind
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Kasturba Medical College, Manipal

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Kasturba Medical College, Manipal

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Durga Clinic & Asthma Cure Center

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Gurukul Kangri Haridwar

B. Sc, B.A.MS.

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Speaks English