Hartnup Disease
33
relevant articles (1 outcomes,
3 trials/studies)
found for this Disease
Description:
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.
Also Known As:
Neutral Amino Acid Transport Defect; Transport Disorder, Neutral Amino Acids; Amino Acid Transport Disorder, Neutral; Neutral Amino Acid Transport Disorder; Transport Disorder, Neutral Amino Acid
Relationship Network
Disease Context: Research Results