eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | homocystinuria due to cystathionine beta-synthase deficiency |
| Symptom | C0019880|homocystinuria |
| Sentences | 13 |
| PubMedID- 19819175 | A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. |
| PubMedID- 25939784 | homocystinuria due to cbs deficiency is a heterogeneous disorder at the molecular level. |
| PubMedID- 22750517 | Determination of l-methionine using methionine-specific dehydrogenase for diagnosis of homocystinuria due to cystathionine beta-synthase deficiency. |
| PubMedID- 23812867 | homocystinuria due to cystathionine beta-synthase deficiency is an inborn error of metabolism first described almost 50 years ago, which involves the accumulation of plasma homocysteine and other metabolites. |
| PubMedID- 21520339 | homocystinuria due to cbs deficiency is a rare autosomal recessive disorder characterized by elevated plasma levels of homocysteine (hcy) and methionine (met). |
| PubMedID- 23934999 | homocystinuria due to cbs deficiency (omim 236200) is a recessive inborn-error of sulfur-amino acid metabolism, resulting in increased levels of homocysteine in the urine. |
| PubMedID- 25638462 | homocystinuria due to cystathionine beta-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated methionine and homocysteine in plasma and homocystine in urine. |
| PubMedID- 25939413 | Conclusion: a diagnosis of homocystinuria due to cbs deficiency should be considered in patients presenting, as target signs, ectopia lentis with or without learning difficulties, and should also be taken into account as a potentially treatable cause of acute psychosis in childhood and adolescence. |
| PubMedID- 22240119 | It appears that the cbs-knockdown nematodes produced in the present study may in part recapitulate some of the features of human homocystinuria due to cbs deficiency. |
| PubMedID- 20033268 | This work paves the way for industrial-scale production of proteins suitable for patients with homocystinuria due to cbs deficiency. |
| PubMedID- 21472412 | However, it is still unknown whether adma synthesis is also elevated in children with homocystinuria due to cystathionine beta-synthase deficiency (classical homocystinuria), and whether adma may play a role in phenylketonuria in childhood. |
| PubMedID- 20506325 | We examined properties of a series of 27 mutant variants, which together represent 70% of known alleles observed in patients with homocystinuria due to cbs deficiency. |
| PubMedID- 25478001 | This review focuses on three hmd categories: acute, treatable hmds (urea cycle abnormalities, remethylation disorders, acute intermittent porphyria); chronic, treatable hmds (wilson's disease, niemann-pick disease type c, homocystinuria due to cystathionine beta-synthase deficiency, cerebrotendinous xanthomatosis); and chronic hmds that are difficult to treat (lysosomal storage diseases, x-linked adrenoleukodystrophy, creatine deficiency syndrome). |
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