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Amino Acid Transport Disorder, Neutral

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.