![What is hartnup disease ?
• Hartnup disease is a condition caused by the body inability to absorb
certain protein building blocks [amino acid] from the diet .
• It is an autosomal recessive disorder resulting, in impaired functioning of
transport protein intestines and kidneys.
• This activity describes the various etiological factors, pathophysiology, and
management of patients with Hartnup disease.](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7)
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Hartnup Disease: Rare Genetic Disorder Causing Amino Acid Malabsorption
- 2. What is hartnup disease ? • Hartnup disease is a condition caused by the body inability to absorb certain protein building blocks [amino acid] from the diet . • It is an autosomal recessive disorder resulting, in impaired functioning of transport protein intestines and kidneys. • This activity describes the various etiological factors, pathophysiology, and management of patients with Hartnup disease.
- 3. Symptoms: • Skin rash • Aniety • Rapid mood swings • Speech difficulties • Shot stature • Sensitivity to light
- 4. History: • Hartnup disease was named for the Hartnup family of England, who featured in a 1956 study of the condition. Four out of eight family members were found to have excessive amounts of amino acids in their urine • They also had skin rash and a lack of coordination of their voluntary muscle movements, known as ataxia.
- 5. Diagnosis of Hartnup Disease: • Urine testing for amino acids • Diagnosis of Hartnup disease is made by showing the characteristic amino acid excretion pattern in the urine
- 6. Treatment of Hartnup Disease: • Nicotinamide for attacks • The number and severity of attacks can be reduced by maintaining good nutrition and supplementing the diet with oral niacin or niacinamide 50 to 100 mg 2 times a day. • Attacks may be treated with oral nicotinamide 20 mg once a day. • Niacin or niacinamide supplements
- 7. Thank you !