• | autosomal recessive; presents in first decade |
• | genetic defect in transport of neutral amino acids across the brush border epithelium of intestine and kidney (with resultant decreased absorption of tryptophan and pellagra-like symptoms) |
diagnosis:
• | urine screen for massive aminoaciduria |
• | when you get a kid with photosensitivity and/or cerebellar ataxia, take a look at the urine |
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