Počet záznamov: 1
homocystinúria
Č. záznamu d006712 Dátum 06.06.2025 Typ M Tematický termín homocystinúria Iný termín Angličtina (Pseudonym) CBS Deficiency
Angličtina (Pseudonym) Cystathionine beta-Synthase Deficiency Disease
Slovenčina (Pseudonym) choroba z deficitu cystationín-beta-syntázy
Slovenčina (Pseudonym) choroba z nedostatku cystationín-beta-syntázy
Slovenčina (Pseudonym) deficit CBS
Slovenčina (Pseudonym) deficit cystationín-beta-syntázy
Pozri tiež (Novšie záhlavie) cystationín-beta-syntáza
(Skutočné meno) cystationín-beta-syntáza
(Novšie záhlavie) 5-metyltetrahydrofolát-homocysteín-metyltransferáza
MDT C10.228.140.163.100.365C16.320.565.100.480.500C16.320.565.189.365C17.300.428C18.452.132.100.365C18.452.648.100.480.500C18.452.648.189.365 Poznámka Autosomal 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) 
predmetové heslo
Počet záznamov: 1