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[Homocystinuria]
Zeitschrift Fur Die Gesamte Innere Medizin Und Ihre Grenzgebiete
|July 1, 1983
Insights
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.
- 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.
Abstract:
It is reported on a female patient with a classical homocystinuria who showed all typical symptoms of the cystathionine-synthesis-insufficiency, such as tall stature, phacetomy, arachnodactyly, kyphoscoliosis, generalized osteoporosis and thromboembolisms. While homocystin in the blood plasma and the urine could be proved only in the patient, the concentration of plasma methionine was much increased also in the clinically completely inconspicuous sister.