Cystathioninuria

Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder that results in an excess of cystathionine in the urine. It is associated with a congenital dysfunction of the enzyme cystathionase, or acquired deficiency of vitamin B₆ which is essential for the function of this enzyme. The latter is usually related to an overall deficiency of all the B-complex vitamins.