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[Homocystinuria].

G Müller, H Lubs, G Seidlitz

    Zeitschrift Fur Die Gesamte Innere Medizin Und Ihre Grenzgebiete
    |July 1, 1983
    PubMed
    Summary
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    Classical homocystinuria, a cystathionine synthesis insufficiency, presents with distinct symptoms in a female patient. Elevated homocystine and methionine levels were observed, even in an asymptomatic sibling.

    Area of Science:

    • Biochemistry
    • Genetics
    • Metabolic Disorders

    Background:

    • Classical homocystinuria is an inherited metabolic disorder caused by deficiency in enzymes involved in the methionine metabolic pathway.
    • Cystathionine beta-synthase deficiency leads to impaired conversion of homocysteine to cystathionine.

    Observation:

    • A female patient presented with classic symptoms of homocystinuria, including tall stature, lens dislocation (phacotomy), arachnodactyly, kyphoscoliosis, osteoporosis, and thromboembolic events.
    • Homocystine was detected in the patient's blood plasma and urine.
    • The patient's clinically unaffected sister also exhibited elevated plasma methionine concentrations.

    Findings:

    • The patient demonstrated a clear biochemical and clinical phenotype of classical homocystinuria.

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  • Elevated plasma methionine levels in an asymptomatic sibling suggest potential genetic carrier status or incomplete penetrance.

    • Implications:

    • This case highlights the diverse clinical manifestations and biochemical profiles in classical homocystinuria.
    • Understanding methionine metabolism and homocysteine levels is crucial for diagnosing and managing this disorder, even in seemingly unaffected relatives.