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homocystinúria

  1. Record numberd006712
    Date06.06.2025
    TypeM
    Topical termhomocystinúria
    Other termEnglish (Pseudonym) CBS Deficiency
    English (Pseudonym) Cystathionine beta-Synthase Deficiency Disease
    Slovak (Pseudonym) choroba z deficitu cystationín-beta-syntázy
    Slovak (Pseudonym) choroba z nedostatku cystationín-beta-syntázy
    Slovak (Pseudonym) deficit CBS
    Slovak (Pseudonym) deficit cystationín-beta-syntázy
    See also(Later heading) cystationín-beta-syntáza
    (Skutočné meno) cystationín-beta-syntáza
    (Later heading) 5-metyltetrahydrofolát-homocysteín-metyltransferáza
    UDCC10.228.140.163.100.365C16.320.565.100.480.500C16.320.565.189.365C17.300.428C18.452.132.100.365C18.452.648.100.480.500C18.452.648.189.365
    NoteAutosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
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