Materiały źródłowe

• #1 Homocystinuria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/homocystinuria

  Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. […] Although no cure exists for homocystinuria, vitamin B therapy can help about half of people affected by the condition. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease. […] People whose blood homocysteine levels continue to rise are at increased risk for blood clots. Clots can cause serious medical problems and shorten lifespan. […] Intellectual disability is a serious outcome of the disease. But, it can be reduced if diagnosed early.

• #1 Homocystinuria – EyeWiki

  https://eyewiki.org/Homocystinuria

  Early diagnosis and management within the first 6 weeks of life significantly reduces the morbidity and mortality of homocystinuria. […] If left untreated, 82% of patients will have ectopia lentis by 10 years of age and 27% will have a clinically detectable thromboembolic event by 15 years old. […] Half of individuals with untreated homocystinuria will have an event before the age of 30 and one predicted event per 25 years at the time of maximal risk. […] Vascular events remain the major cause of morbidity and mortality in untreated patients. […] However, appropriate long-term treatment is effective in reducing the potentially life-threatening thromboembolic events and any other complication, ocular, skeletal, or nervous.

• #1 Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7569964/

  The social and intellectual outcomes of adult Japanese patients with HCU detected by NBS were favorable. However, even in the patients in the NBS group, some symptoms might not be preventable, and long-term outcomes may worsen if treatment is interrupted. […] Our study revealed that NBS substantially contributed to the improvement in the long-term outcomes of Japanese patients with HCU but that the symptoms might progress even in patients detected by NBS. […] Our results also indicate that lifelong continuous treatment is important to the achievement of improved long-term outcomes. […] Although all nine patients in the NBS group were alive, three patients in the non-NBS group had already died. […] Our results suggest that, even if HCU is detected by NBS and is continuously treated, the condition is likely to progress in some cases. […] The long-term, particularly social and intellectual, outcomes of Japanese adult patients with HCU detected by NBS were favorable compared with those of patients with clinically detected HCU.

• #1 Homocystinuria (HCU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/25160-homocystinuria

  With early diagnosis and lifelong treatment, most children with homocystinuria can expect to live normal, healthy lives. […] Finding out you or your baby have a genetic disease can be overwhelming. Take the time you need to learn everything you can about homocystinuria. Then, find a healthcare provider who understands your condition completely. Working with an expert in metabolic conditions may help you feel a sense of control. By empowering yourself with resources and information, you’ll ensure the best possible outcome.

• #1 The Treatment of High Homocysteine Concentrations in Homocystinuria: Biochemical Control in Patients and Their Vascular Outcome | SpringerLink

  https://link.springer.com/chapter/10.1007/978-94-017-1789-2_22

  The natural history of individuals with homocystinuria due to cystathionine -synthase deficiency was first documented in 1985 by Mudd et al. Untreated, these individuals have severe hyperhomocysteinemia resulting in complications involving the eye (ectopia lentis), skeletal (osteoporosis, dolichostenomelia), vascular (thromboembolic events) and central nervous systems. Vascular complications are, however, the most striking cause of major morbidity and mortality in homocystinuric individuals. […] This clearly establishes that appropriate treatment of severe hyperhomocysteinemia significantly reduces the vascular risk in homocystinuria, albeit post-treatment homocysteine levels may still be several times higher than the cut-off point for homocysteine in the normal population. […] The present findings may have relevance to the current concept of mild hyperhomocysteinemia and its association with cardiovascular disease, in which the elevation of plasma homocysteine levels is considerably lower than the post-treatment levels reported by the three centers.

• #2 The Treatment of High Homocysteine Concentrations in Homocystinuria: Biochemical Control in Patients and Their Vascular Outcome | SpringerLink

  https://link.springer.com/chapter/10.1007/978-94-017-1789-2_22

  The natural history of individuals with homocystinuria due to cystathionine -synthase deficiency was first documented in 1985 by Mudd et al. Untreated, these individuals have severe hyperhomocysteinemia resulting in complications involving the eye (ectopia lentis), skeletal (osteoporosis, dolichostenomelia), vascular (thromboembolic events) and central nervous systems. Vascular complications are, however, the most striking cause of major morbidity and mortality in homocystinuric individuals. […] This clearly establishes that appropriate treatment of severe hyperhomocysteinemia significantly reduces the vascular risk in homocystinuria, albeit post-treatment homocysteine levels may still be several times higher than the cut-off point for homocysteine in the normal population. […] The present findings may have relevance to the current concept of mild hyperhomocysteinemia and its association with cardiovascular disease, in which the elevation of plasma homocysteine levels is considerably lower than the post-treatment levels reported by the three centers.

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