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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    The enzyme encoded in the HGD gene. Mutation of HGD \causes the genetic disease alkaptonuria. Homogentisate 1,2-dioxygenase is also called homogentisate oxidase.

  • Homogentisate oxidase

    The enzyme encoded in the HGD gene. Mutation of HGD causes the genetic disease alkaptonuria. Homogentisate oxidase is also called Homogentisate 1,2-dioxygenase .

  • Homologies

    Similarities in DNA or protein sequences between individuals or between species.

  • Homologous

    The relationship between two chromosomes that are paired and so are homologs of each other.

  • Homologous chromosomes

    A pair of chromosomes that contain the same gene sequences, each derived from one parent.


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