Loading...
Header Logo
Keywords
Last Name
Institution

Hartnup Disease

"Hartnup Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

expand / collapse MeSH information
An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.


expand / collapse publications
This graph shows the total number of publications written about "Hartnup Disease" by people in this website by year, and whether "Hartnup Disease" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
_