By Disease Name > Hartnup Disease

Hartnup Disease

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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