My watch list
my.bionity.com  
Login  

Hartnup disease



Hartnup disease
Classification & external resources
Tryptophan
ICD-10 E72.0
ICD-9 270.0
OMIM 234500
DiseasesDB 5638
eMedicine derm/713 
MeSH D006250

Monkey disease, or Hartnup's disease, or Hartnup disorder, is an autosomal recessive genetic metabolic disorder in the absorption of the amino acid tryptophan that can be, in turn, converted into Serotonin, Melatonin and Niacin. Niacin is a precursor to nicotinamide, a necessary component of NAD+.

Additional recommended knowledge

The causative gene is located on chromosome 5.

Symptoms

Hartnup disease manifest during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus and tremor. Nicotinamide is necessary for neutral amino acid transporter production in the proximal renal tubules found in the kidney, and intestinal mucosal cells found in the small intestine. Therefore, a symptom stemming from this disorder results in increased amounts of amino acids in the urine.

Pellagra is also caused by low nicotinamide; this disorder results in dermatitis, diarrhea and dementia.

See also


 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Hartnup_disease". A list of authors is available in Wikipedia.
Your browser is not current. Microsoft Internet Explorer 6.0 does not support some functions on Chemie.DE