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Homocystinuria: pathogenetic mechanisms.

A J Grieco

    The American Journal of the Medical Sciences
    |March 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    Homocystinuria, caused by cystathionine synthetase deficiency, leads to elevated homocysteine and methionine. This genetic disorder results in neurological, skeletal, and vascular complications due to high homocysteine levels.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Metabolic Disorders

    Background:

    • Homocystinuria is an inherited metabolic disorder characterized by elevated plasma homocysteine and methionine.
    • It stems from deficient activity of cystathionine synthetase, crucial for converting homocysteine to cystathionine.
    • This autosomal recessive condition has a global prevalence.

    Purpose of the Study:

    • To elucidate the biochemical basis and clinical manifestations of homocystinuria.
    • To understand the pathogenetic mechanisms linking elevated homocysteine to disease phenotypes.
    • To identify different forms of homocystinuria, including those related to vitamin B12 metabolism.

    Main Methods:

    • Analysis of enzyme activity (cystathionine synthetase).
    • Biochemical assays for plasma homocysteine and methionine levels.

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  • Review of clinical data correlating homocysteine levels with manifestations.
  • Investigation of genetic and metabolic factors in low methionine homocystinuria.

    • Main Results:

    • Deficient cystathionine synthetase activity is the primary cause of elevated homocysteine and methionine.
    • High plasma homocysteine levels are linked to excitotoxicity (mental retardation, seizures), collagen cross-linking interference (ectopia lentis, skeletal deformities), and vascular endothelium disruption (thrombosis, occlusions).
    • Low methionine homocystinuria is associated with vitamin B12 metabolism derangements and deficient 5,10-methylene-tetrahydrofolate reductase.

    Conclusions:

    • Homocystinuria's diverse clinical features are directly attributable to elevated homocysteine levels.
    • Understanding the enzymatic and metabolic defects is key to managing this disorder.
    • Further research is needed to clarify the mechanism by which azaribine induces homocystinuria.