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. Generated by gene2mesh v. 1.1.1
LABEL:
Hartnup Disease
SCORE TYPE:
Binary
DATE ADDED:
DATE UPDATED:
SPECIES:
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