NLM Logo

Hartnup Disease MeSH Descriptor Data 2023


MeSH Heading
Hartnup Disease
Tree Number(s)
C10.228.140.163.100.355
C12.050.351.968.419.815.885.625
C12.200.777.419.815.885.457
C12.950.419.815.885.625
C16.320.565.151.355
C16.320.565.189.355
C16.320.831.885.457
C18.452.132.100.355
C18.452.648.151.355
C18.452.648.189.355
Unique ID
D006250
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D006250
Scope Note
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.
Entry Version
HARTNUP DIS
Entry Term(s)
Amino Acid Transport Disorder, Neutral
Hartnup Disorder
Neutral Amino Acid Transport Defect
Neutral Amino Acid Transport Disorder
Transport Disorder, Neutral Amino Acid
Transport Disorder, Neutral Amino Acids
Public MeSH Note
1965
History Note
1965
Date Established
1965/01/01
Date of Entry
1999/01/01
Revision Date
2021/06/30
Hartnup Disease Preferred
page delivered in 0.229s