cystathioninuria

[sĭs′tə-thī′ə-nē-nurē-ə]
n.
  1. An inherited disorder of cystathionine metabolism characterized by elevated concentrations of cystathionine in the blood, tissues, and urine, and sometimes mental retardation.
The American Heritage® Stedman's Medical Dictionary Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.