Medical Definition of Homocystinuria

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Homocystinuria: A genetic disease that is due to an enzyme deficiency that permits a buildup of the amino acid homocysteine. Progressive mental retardation is common, but does not always occur, in untreated cases of homocystinuria. The finding of vascular disease and premature arteriosclerosis in persons with homocystinuria led to the theory that homocysteine may be a factor in heart disease. Homocystinuria is inherited in an autosomal recessive manner and is one of the diseases commonly included among the diseases for which newborns are screened. Treatments include special diets and vitamin B6.

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Reviewed on 12/12/2018

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