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

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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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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
Dharmapuri, Tamil Nadu, India
392 followers

Kasturba Medical College, Manipal

Fage

Kasturba Medical College, Manipal

DVD

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Jind
273 followers
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Chandrapur
1235 followers
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kolkata
4379 followers

PGIMER, Chandigarh

MD

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Speaks Bengali, English, Hindi, Nepali
Agartala
43 followers

Maharaja Gandhi Institute Of Medical Sciences, Sewagram

DCH

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