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Hartnup disease

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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

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Hartnup disease

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High Yield Notes
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Hartnup disease

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USMLE® Step 1 style questions USMLE

2 questions
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An 11-year-old boy is brought in by his parent to the clinic when she noticed a skin rash over his chest and arms over the past 2 weeks. The boy has noticed that the rash becomes pruritic and painful to touch when he goes outside during recess at school. He also complains of diarrhea over the past several weeks. His parent states his developmental history has been unremarkable except for similar rashes when he was 5 years old that resolved spontaneously. He takes no medications and has not received treatment for any condition in the past. Temperature is 37.0°C (98.6°F), pulse is 72/min, respirations are 18/min, and blood pressure is 115/72 mmHg. BMI is 19 kg/m2. Physical examination reveals well-defined, hyperpigmented, hyperkeratotic, symmetrical, thick scaly plaques surrounded by erythema on the dorsa of the hands, arms, feet, up to the knees, and along the sides of the neck. Urine studies are shown below:

 

 Urine  
 Erythrocytes  0/hpf 
 Leukocytes  10/hpf 
 Sediment   None 
 Urine chromatography   Neutral amino acids  

Genetic testing is performed and the diagnosis is confirmed. Which of the following is the most likely pathological mechanism of this patient’s condition?  

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Summary

Hartnup disease is a rare autosomal recessive disorder in which a transport protein necessary for the absorption of neutral amino acids is defective. So, Hartnup disease is associated with impaired absorption of neutral amino acids such as tryptophan, which is responsible for synthesizing vitamin B3. This results in vitamin B3 deficiency, presenting symptoms of pellagra ( diarrhea, dermatitis, dementia), cerebellar ataxia, and seizures.