Amino Acid Transport Disorder, Neutral
Neutral Amino Acid Transport Defect
Neutral Amino Acid Transport Disorder
Transport Disorder, Neutral Amino Acid
Transport Disorder, Neutral Amino Acids
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.