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Definition (MSH)
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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)
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Definition (NCI)
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An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.
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Definition (CSP)
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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 varis, 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.
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| Concepts |
Disease or Syndrome
(T047)
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| MSH |
D006712
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| ICD10 |
E72.11
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| SnomedCT |
190709008, 11282001 |
| LNC |
LP56981-1 |
| Japanese |
ホモシスチン尿, ﾎﾓｼｽﾁﾝﾆｮｳ, ホモシスチン血症, シスタチオニン合成酵素欠損, シスタチオニン合成酵素欠損症, ホモシスチン尿症, 高ホモシスチン血症 |
| Swedish |
Homocystinuri
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| English |
Homocystinuria, cystathionine synthase deficiency, homocystinuria, homocystinuria (diagnosis), Cystathionine synthase deficiency, Homocystinuria [Disease/Finding], Homocystinuria (disorder), Homocystinuria, NOS, Homocystinuria [Ambiguous] |
| Czech |
homocystinurie, Homocystinurie |
| Finnish |
Homokystinuria
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| Russian |
GOMOTSISTINURIIA, ГОМОЦИСТИНУРИЯ |
| Polish |
Homocystynuria
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| Hungarian |
Homocystinuria
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| Norwegian |
Homocystinuri
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| Spanish |
homocistinuria (trastorno), homocistinuria, Homocistinuria |
| Dutch |
homocystinurie, Cystinurie, homo-, Homocystinurie |
| German |
Homocystinurie, Homozystinurie |
| French |
Homocystinurie
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| Italian |
Omocistinuria
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| Portuguese |
Homocistinúria
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