: Maladies humaines: cystathioninuria

disease > urinary system disease > kidney disease > tubulopathy > cystathioninuria

disease > genetic disease > hereditary disease > aminoacid disorder > cystathioninuria

disease > enzymopathy > aminoacid disorder > cystathioninuria

cystathioninuria

Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder. It is characterized by an abnormal accumulation of plasma cystathionine leading to excess cystathionine in the urine. (Wikipedia)

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