Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive[1] 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.
Cystathioninuria has an autosomal recessive pattern of
inheritance.
References
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