Materiały źródłowe

• #1 Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7059682/

  Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000-200,000 people in the United States (US). […] The age-adjusted national prevalence of HCU was projected at 31,162 (95% CI: 30,411-31,913; ~1 in 10,000 of the US population) using the broad definition. […] The actual prevalence of HCU may be 10 times prior estimates, at 1 in 10,000 in the US, and this study suggests that HCU is not being diagnosed until later in life. […] Improvements to newborn screening, detection in young children, and physician education regarding HCU among patients may be necessary to alleviate the burden of this genetic disease. […] The projected prevalence of diagnosed HCU ranged from 12,113 (95% CI: 11,634-12,593) with the strict definition to 31,162 (30,411-31,913) with the broad definition of HCU. […] Age-adjusted prevalence of elevated tHcy without an HCU diagnosis was estimated to be 89,470 (85,565-93,374).

• #1 Homocystinuria: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/homocystinuria/

  Classic homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). […] The rarer forms of homocystinuria each have a small number of cases reported in the scientific literature.

• #1 Global Homocystinuria Market Analysis/Forecast Report 2021-2028: Opportunities with Pyridoxine as a First-Line Agent for Homocystinuria – ResearchAndMarkets.com

  https://www.businesswire.com/news/home/20220228005998/en/Global-Homocystinuria-Market-AnalysisForecast-Report-2021-2028-Opportunities-with-Pyridoxine-as-a-First-Line-Agent-for-Homocystinuria—ResearchAndMarkets.com

  Homocystinuria is more prevalent in Europe than in Asia Pacific and North America. […] According to the National Library of Medicine, the most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people across the globe. Moreover, the disorder is common in various countries such as Germany, Ireland, Norway, and Qatar. In Ireland, the disorder affects 1 in 65,000 people. […] In Germany, homocystinuria affects 1 in 17,800 people, and in Norway, the disorder affects 1 in 6,400 people. Thus, the increase in the prevalence of inherited metabolic disorders is expected to boost the growth of the homocystinuria market worldwide.

• #1 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1115062-overview

  Studies utilizing administrative claims data have estimated the prevalence of homocystinyuria in the United States to be approximately 1 in 10,000 individuals. This figure is significantly higher than earlier estimates, which ranged from 1 in 100,000 to 200,000 people. This discrepancy may indicate the inadequacy of current newborn screening techniques. Internationally, the reported incidence of homocystinuria varies between 1 in 50,000 and 1 in 200,000. […] Early diagnosis and intervention have helped in preventing some of the complications of homocystinuria, including ectopia lentis, intellectual disability, and thromboembolic events. A mortality rate of 18% by age 30 has been reported from a worldwide series of 629 patients with CBS enzyme deficiency. Death is predominantly due to cerebrovascular or cardiovascular causes.

• #1 Homocystinuria Epidemiology Insight Report 2017-2030: Focus

  https://www.globenewswire.com/fr/news-release/2021/01/08/2155679/0/en/Homocystinuria-Epidemiology-Insight-Report-2017-2030-Focus-on-United-States-Germany-France-Italy-Spain-United-Kingdom-and-Japan.html

  The HCU epidemiology division provides insights about historical and current HCU patient pool and forecasted trends for every seven major countries. […] In the year 2017, the total prevalent case of HCU was 41,684 cases in the 7MM which are expected to grow during the study period, i.e., 2017-2030. […] Estimates show that the highest cases of HCU in the 7MM were in the United States, followed by Germany, France, the United Kingdom, Italy, Spain, and Japan in 2017. […] In the United States, the total number of prevalent cases of HCU was 32,515 cases in the year 2017 which are expected to grow during the study period, i.e., 2017-2030. […] In the year 2017, the total prevalent cases of HCU were 8,537 cases in EU-5 which are expected to grow during the study period, i.e., 2017-2030. […] In Japan, the total number of prevalent cases of HCU was 632 cases in the year 2017 which are expected to grow during the study period, i.e., 2017-2030.

• #1 Homocystinuria Market Report 2032: Epidemiology Data,

  https://www.openpr.com/news/3281382/homocystinuria-market-report-2032-epidemiology-data

  There were over 45,000 Homocystinuria cases that were frequent in the 7MM overall in 2022. The age group of 55-74 years old had the highest age-specific prevalence cases. In the US, 14,000 cases of Homocystinuria were detected overall in 2022. The number of these cases is expected to rise between 2019 and 2032. […] The Homocystinuria market report proffers epidemiological analysis for the study period 2019-2032 in the 7MM segmented into: Total Prevalence of Homocystinuria Prevalent Cases of Homocystinuria by severity Gender-specific Prevalence of Homocystinuria Diagnosed Cases of Episodic and Chronic Homocystinuria.

• #1 Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison – PubMed

  https://pubmed.ncbi.nlm.nih.gov/32143624/

  Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000-200,000 people in the United States (US). HCU is poorly detected by newborn screening, resulting in underestimates of its prevalence. […] The age-adjusted national prevalence of HCU was projected at 31,162 (95% CI: 30,411 – 31,913; ~ 1 in 10,000 of the US population) using the broad definition. […] The actual prevalence of HCU may be 10 times prior estimates, at 1 in 10,000 in the US, and this study suggests that HCU is not being diagnosed until later in life. Improvements to newborn screening, detection in young children, and physician education regarding HCU among patients may be necessary to alleviate the burden of this genetic disease.

• #1 Homocystinuria – EyeWiki

  https://eyewiki.org/Homocystinuria

  The worldwide prevalence of homocystinuria is estimated to be 0.82:100,000 according to clinical records and 1.09:100,000 by neonatal screening. Minimum worldwide incidence is estimated to be ~0.38:100,000 and the incidence has been shown to be higher in non-Finnish Europeans (~0.72:100,000) and Latin Americans (~0.45:100,000) and lower in Africans (~0.20:100,000) and Asians (~0.02:100,000). […] The most important tool for homocystinuria diagnosis is newborn screening, which has high sensitivity to detect many inborn errors of metabolism, including homocystinuria.

• #1 Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

  https://www.mdpi.com/2409-515X/7/3/48

  Homocystinuria due to cystathionine β-synthase deficiency affects an estimated 1 in 200,000 newborns in the US, but the true prevalence may be much higher since current newborn screening protocols that utilize methionine and, in many screening programs, total homocysteine as a second-tier test, may fail to identify all newborns affected by the disorder. […] With the advent of expanded newborn screening (ENBS) using MS/MS, many treatable metabolic disorders are being detected before affected infants and children become symptomatic. Screening is usually performed within 48 h of life in most states in the US and some states perform a second screen as a policy on all tested newborns or based on when the initial newborn screen was performed. […] The primary newborn screening target for homocystinuria is methionine. It is well established that with methionine as the primary target, infants are missed on the screen, but it is not clear how many infants are not detected.

• #1 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01764-x

  The main genetic causes of homocystinuria are cystathionine beta-synthase (CBS) deficiency and the remethylation defects. Many patients present in childhood but milder forms may present later in life. Some countries have newborn screening programs for the homocystinurias but these do not detect all patients. […] The worldwide incidence of CBS deficiency is about 1:100,0001:200,000, ranging from 1:1800 to 1:900,000 depending on ethnicity and method of case ascertainment. […] Currently, newborn screening programmes targeting at least one of the homocystinurias (most frequently CBS deficiency) are in place in several European countries such as the Czech Republic, Germany, Spain, the UK and Ireland; in several US states; in Qatar, Japan, Korea; and in Australia. […] Approximately one quarter of the patients in this survey had been detected by newborn screening and reported higher satisfaction with the diagnostic procedure and with treatment and medical care than those detected clinically.

• #1 Homocystinuria | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/homocystinuria

  It is estimated that fewer than 20 babies are born with this condition each year in the United States. […] Newborn screening for homocystinuria is done using a small amount of blood collected from your baby’s heel. […] Babies with high levels of methionine, homocysteine, or both, might have homocystinuria. […] False-positive newborn screening results for this condition are rare. […] False-negative newborn screening results for this condition can happen. Screening samples collected too early (before the baby is 24 hours old) may affect the results of screening.

• #1 Homocystinuria due to cystathionine beta-synthase deficiency | MedLink Neurology

  https://www.medlink.com/articles/homocystinuria-due-to-cystathionine-beta-synthase-deficiency

  Data for the frequency of cystathionine beta-synthase deficiency are derived from the number of patients detected by newborn screening for cystathionine beta-synthase deficiency, though a measurement of methionine is likely an underestimate of the true rate of occurrence of cystathionine beta-synthase deficiency. […] Particularly, the pyridoxine-responsive cystathionine beta-synthase deficiency, the most readily treatable form, is being preferentially missed by newborn screening. […] Skovby and colleagues concluded that the predominant portion of such homozygotes are clinically unaffected or may be identified due to thromboembolic events that occur no sooner than the third decade of life.

• #1 Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

  https://www.mdpi.com/2409-515X/7/3/48

  To improve performance of NBS for the homocystinurias, a four-step strategy has been recommended: revision of cutoffs based on local median values, combination of relevant markers such as Met/Phe, use of the center-adjusted postanalytical tools offered by CLIR and implementation of total homocysteine. […] It may therefore be reasonable for newborn screening programs to use combination analytes such as methionine and total homocysteine, methionine/phenylalanine ratio or adopt a mandatory confirmatory metabolic testing of conditions with significant risk of false negative results to avoid the pitfalls associated with possible missed cases on initial screen.

• #1 Novel Test May Help Detect, Treat Homocystinuria in Newborns | Today’s Clinical Lab

  https://www.clinicallab.com/novel-test-may-help-detect-treat-homocystinuria-in-newborns-27134

  Researchers from the Centers for Disease Control and Prevention (CDC) developed a new direct screening test that helps in the early detection and intervention of classic homocystinuria (HCU) in infants. […] The ability to screen total homocysteine during first-tier newborn screening is a significant step toward reducing HCU false-negative rates, which will enable early identification and intervention to reduce HCU-associated morbidity and mortality, said Petritis in a recent press release.

• #1

  https://journals.lww.com/adbm/fulltext/2017/06000/homocystinuria_with_stroke_and_positive_familial.132.aspx

  Homocystinuria, a rare autosomal recessive disorder, is a defect in the transsulfuration pathway (homocystinuria I) or methylation pathway (homocystinuria II and III). Its prevalence has been estimated to be 1 in 344,000.[1] […] Increased carotid plaque thickness has been associated with high homocysteine and low B12 levels and subsequent higher risk of stroke. This association between homocystinuria and the vascular complications was first reported in 1976,[6] and since then, several studies have confirmed this association.[7,8] […] Early vascular occlusion is the most serious complication in patients with homocystinuria. Approximately 40% of patients with homocystinuria will have a thromboembolic vascular lesion, which is the cause of disability and mortality in patients before the age of 20 years.[12] […] In summary, homocystinuria should be investigated in any patient presenting with stroke or vasculopathy, even in the absence of other classic features of the disease.[10]

• #1 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1115062-overview

  Children with CBS deficiency (homocystinuria I) may be normal at birth. Data suggest that starting at around age 20 years, these patients have an increasing likelihood of suffering a thromboembolic event. Patients with either defective methylcobalamin synthesis or defective tetrahydrofolate metabolism may present in early infancy.

• #1 Homocystinuria Presenting as a Simultaneous Dual-Site Venous Thrombosis

  https://www.genesispub.org/homocystinuria-presenting-as-a-simultaneous-dual-site-venous-thrombosis

  Hyperhomocysteinemia has been associated with venous thromboembolism (VTE) due to its primary atherogenic and prothrombotic properties. […] These observations were presumed to explain the association between hyperhomocysteinemia and various other diseases like cardiovascular/cerebrovascular/venous thromboembolism/osteoporosis and Dementia. […] Vascular complication continues to be a major cause of morbidity and mortality. […] It has been shown that before the age of 30 years, more than half of the affected patients will suffer at least one thromboembolic event. […] The treatment goal for Homocystinuria is to lower the plasma total homocysteine (tHcy) concentration to the level below the therapeutic target to limit the severity of complications and reduces the risk of a further vascular event. […] In conclusion, although Homocystinuria is a very rare condition, it is a treatable and preventable cause of thromboembolism.

• #1 Homocystinuria diagnosis and management: it is not all classical | Journal of Clinical Pathology

  https://jcp.bmj.com/content/75/11/744

  Homocystinuria (HCU) comprises a number of disorders of homocysteine (HCy) metabolism united by the common biochemical finding of a high blood HCy concentration. […] The most common causes of a high blood homocysteine relate to underlying vitamin B12 or folate deficiency which must be excluded first. […] Its estimated worldwide prevalence from newborn screening and clinical case finding is between 1 in 200000 and 335 000, although it varies by ethnicity with a higher prevalence seen in certain populations (1 in 65000 in Ireland, 1 in 17800 in Germany and 1 in 1800 in Qatar). […] Prospective or very early initiation of treatment of classical (non-pyridoxine-responsive) HCU before complications arise dramatically improves the outlook for patients and formed the rationale for its inclusion in newborn bloodspot screening programmes in many countries worldwide.

• #1 Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison | BMC Health Services Research | Full Text

  https://bmchealthservres.biomedcentral.com/articles/10.1186/s12913-020-5054-5

  Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000-200,000 people in the United States (US). HCU is poorly detected by newborn screening, resulting in underestimates of its prevalence. […] The age-adjusted national prevalence of HCU was projected at 31,162 (95% CI: 30,411-31,913; ~1 in 10,000 of the US population) using the broad definition. […] The actual prevalence of HCU may be 10 times prior estimates, at 1 in 10,000 in the US, and this study suggests that HCU is not being diagnosed until later in life. […] These projections point to a non-trivial number of patients living with undiagnosed HCU early in life and suffering from various sequela of the disease without awareness of what is causing their symptoms.

• #1 Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison | BMC Health Services Research | Full Text

  https://bmchealthservres.biomedcentral.com/articles/10.1186/s12913-020-5054-5

  Given that the majority of HCU claims observed in this study were submitted by family and internal medicine practitioners, improving primary care providers’ understanding and management of HCU may lead to earlier diagnosis and lessen the healthcare utilization and costs associated with the condition, including resource-intensive and costly hospitalizations.

• #1 Homocystinuria Market Report 2032: Epidemiology Data,

  https://www.openpr.com/news/3281382/homocystinuria-market-report-2032-epidemiology-data

  Homocystinuria Market Report 2032: Epidemiology Data, DelveInsight’s „Homocystinuria Market Insights, Epidemiology, and Market Forecast-2032 report offers an in-depth understanding of the Homocystinuria, historical and forecasted epidemiology as well as the Homocystinuria market trends in the United States, EU4 (Germany, Spain, Italy, France) the United Kingdom and Japan. […] The epidemiology section provides insights into the historical, current, and forecasted epidemiology trends in the seven major countries (7MM) from 2019 to 2032. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. […] The Homocystinuria market is expected to surge due to the disease’s increasing prevalence and awareness during the forecast period.

• #1 Global Homocystinuria Market to 2030 – Insight, Epidemiology and Forecast – ResearchAndMarkets.com

  https://www.businesswire.com/news/home/20210108005291/en/Global-Homocystinuria-Market-to-2030—Insight-Epidemiology-and-Forecast—ResearchAndMarkets.com

  This report delivers an in-depth understanding of the HCU, historical and forecasted epidemiology as well as the HCU market trends in the United States, EU5 (Germany, France, Italy, Spain, and United Kingdom), and Japan. […] The disease epidemiology covered in the report provides historical as well as forecasted HCU epidemiology [segmented as Total Prevalent Cases of HCU, Total Diagnosed Cases of HCU, Gender-specific Prevalent cases of HCU, Age-specific Prevalent Cases of HCU, and Treated cases of HCU] in the 7MM covering the United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom), and Japan from 2017 to 2030. […] Comprehensive insight has been provided into the HCU epidemiology and treatment in the 7MM.

• #1 Seven novel genetic variants in a North Indian cohort with classical homocystinuria | Scientific Reports

  https://www.nature.com/articles/s41598-020-73475-5

  Classical homocystinuria is the most common cause of isolated homocystinuria. […] The global incidence of classical homocystinuria is estimated to be 1 in 344,000. A higher incidence has been reported from Ireland (1 in 65,000) and Qatar (1 in 1800) due to higher consanguinity. The actual incidence in India is unknown. […] Our study reports the detailed genotype and seven novel variants in the CBS gene, causing classical homocystinuria in Indian children. The genetic analysis will help to offer accurate genetic counseling, prenatal diagnosis, and development of mutation-based novel therapeutic strategies. […] Our study identified the spectrum of variants prevailing in the CBS gene responsible for classical homocystinuria from India. To the best of our knowledge, this is the first study to provide a genetic characterization of homocystinuria in India.

• #1 Homocystinuria – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/homocystinuria/

  Homocystinuria is rare. The most common form of the disease affects about 1 in 200,000 to 335,000 people worldwide. It is more common in certain countries, including: Ireland, Germany, Norway, Qatar. […] Most states in the US test for the more common genetic form of this disorder, classic homocystinuria, during a newborn screening at birth. The disorder can also be diagnosed through a blood test. The blood test will measure the total amount of homocysteine in the blood. Genetic testing can also be helpful in making the diagnosis later in life. […] HCU Network America provides resources and information which includes: finding a clinic, guidelines for diagnosis and management, tool kits and a checklist, as well as videos. The website has an extensive research section which highlights grants, the organizations projects, and publications. One of the goals of HCU Network American is to create connections across the community and facilitate sharing of information and best practices through in-person and virtual events and discussions. Another key goal is to improve newborn screening for HCU.

• #1 Orphanet: Homocystinuria due to cystathionine beta-synthase deficiency

  https://www.orpha.net/en/disease/detail/394

  The prevalence of the disease varies widely depending on ethnicity and the method of ascertainment, from 1/300,000 in historical clinical descriptions, to 1/1800 in Qatar (highest prevalence in the world), and an estimated 1/17,800 in Germany by molecular genetic screening of a normal population. […] The disease is autosomal recessive. At conception, each sib of heterozygous parents has a 25% risk of being affected.

• #1 A cure for orphan disease homocystinuria?

  https://news.cuanschutz.edu/news-stories/a-cure-for-orphan-disease-homocystinuria

  Recent research has estimated the prevalence of homocystinuria in the United States may be as high as 1 in 10,000 people, as symptoms of the disease can be mistaken for those of other disorders. This number is substantially higher than prior estimates of 1 in 100,000-200,000 in the United States and 1 in 200,000-335,000 worldwide. Rates are exceptionally high in the Middle East, especially in Qatar, where the incidence is approximately 1 in 1,000. […] Unfortunately, newborn screening for homocystinuria is still not sensitive enough, and therefore many patients are still missed and only diagnosed later in life. […] When the enzyme replacement therapy successfully passes through the clinical trials and we are optimistic this will occur it will become even more relevant to identify patients and treat them with the available therapy as soon as possible, said Tomas Majtan, PhD, a leading expert in the field of homocystinuria research. Our experience with the animal models is that early continual treatment completely prevents even the most severe symptoms of the disease.

• #1 A cure for orphan disease homocystinuria?

  https://news.cuanschutz.edu/news-stories/a-cure-for-orphan-disease-homocystinuria

  Basically, theres a critical unmet need for clinical options for these patients, he said. […] The strict dietary requirements advised by doctors substantially affects the quality of life of the patients and their families, said Majtan, who recently attended a homocystinuria patient advocacy groups gathering in Rome. Based on our pre-clinical data, we are convinced that the enzyme replacement therapy could markedly reduce or entirely eliminate dietary management of the patients, who in turn could enjoy life in full.

• #1 WV DHHR – OMCFH – Newborn Metabolic Screening – Homocystinuria

  https://www.wvdhhr.org/nbms/diseases/Homocystinuria.asp

  IncidenceAlthough homocystinuria is a rare disorder, carriers of the condition represent a much larger population. If one assumes a worldwide incidence of 1 in 300000 individuals, the expected carrier frequency is 1 in 135. Because carriers are more prone to thromboembolic events, ascertainment of these individuals via identification of an affected person needs to be emphasized to primary health care professionals.98 […] The incidence in Ireland, Australia, Great Britain, and New England is 1 in 50000, the incidence in Japan is 1 in 1 million, and the worldwide incidence is 1 in 250000. […] Programs continue to evaluate the efficacy of screening and early treatment. Improvement in screening to decrease the numbers of missed cases is important. Recent evidence has shown that carriers (heterozygotes) for homocystinuria have an increased risk of thromboembolic events. Therefore, genetic counseling and screening should be offered to relatives of persons with homocystinuria.

• #2 Homocystinuria: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/homocystinuria/

  Classic homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). […] The rarer forms of homocystinuria each have a small number of cases reported in the scientific literature.

• #2 Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison – PubMed

  https://pubmed.ncbi.nlm.nih.gov/32143624/

  Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000-200,000 people in the United States (US). HCU is poorly detected by newborn screening, resulting in underestimates of its prevalence. […] The age-adjusted national prevalence of HCU was projected at 31,162 (95% CI: 30,411 – 31,913; ~ 1 in 10,000 of the US population) using the broad definition. […] The actual prevalence of HCU may be 10 times prior estimates, at 1 in 10,000 in the US, and this study suggests that HCU is not being diagnosed until later in life. Improvements to newborn screening, detection in young children, and physician education regarding HCU among patients may be necessary to alleviate the burden of this genetic disease.

• #2 Orphanet: Homocystinuria due to cystathionine beta-synthase deficiency

  https://www.orpha.net/en/disease/detail/394

  The prevalence of the disease varies widely depending on ethnicity and the method of ascertainment, from 1/300,000 in historical clinical descriptions, to 1/1800 in Qatar (highest prevalence in the world), and an estimated 1/17,800 in Germany by molecular genetic screening of a normal population. […] The disease is autosomal recessive. At conception, each sib of heterozygous parents has a 25% risk of being affected.

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

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

  Homocystinuria is a rare genetic disorder. […] Some studies have shown that the condition appears to affect people in certain countries more often. These countries include: Ireland, Norway, Germany, Qatar. […] Homocystinuria is a rare genetic disorder. The most common type of the disease affects about 1 in every 200,000 to 335,000 people worldwide.

• #2 Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7059682/

  Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000-200,000 people in the United States (US). […] The age-adjusted national prevalence of HCU was projected at 31,162 (95% CI: 30,411-31,913; ~1 in 10,000 of the US population) using the broad definition. […] The actual prevalence of HCU may be 10 times prior estimates, at 1 in 10,000 in the US, and this study suggests that HCU is not being diagnosed until later in life. […] Improvements to newborn screening, detection in young children, and physician education regarding HCU among patients may be necessary to alleviate the burden of this genetic disease. […] The projected prevalence of diagnosed HCU ranged from 12,113 (95% CI: 11,634-12,593) with the strict definition to 31,162 (30,411-31,913) with the broad definition of HCU. […] Age-adjusted prevalence of elevated tHcy without an HCU diagnosis was estimated to be 89,470 (85,565-93,374).

• #2 Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison | BMC Health Services Research | Full Text

  https://bmchealthservres.biomedcentral.com/articles/10.1186/s12913-020-5054-5

  Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000-200,000 people in the United States (US). HCU is poorly detected by newborn screening, resulting in underestimates of its prevalence. […] The age-adjusted national prevalence of HCU was projected at 31,162 (95% CI: 30,411-31,913; ~1 in 10,000 of the US population) using the broad definition. […] The actual prevalence of HCU may be 10 times prior estimates, at 1 in 10,000 in the US, and this study suggests that HCU is not being diagnosed until later in life. […] These projections point to a non-trivial number of patients living with undiagnosed HCU early in life and suffering from various sequela of the disease without awareness of what is causing their symptoms.

• #2 Global Homocystinuria Market Analysis/Forecast Report 2021-2028: Opportunities with Pyridoxine as a First-Line Agent for Homocystinuria – ResearchAndMarkets.com

  https://www.businesswire.com/news/home/20220228005998/en/Global-Homocystinuria-Market-AnalysisForecast-Report-2021-2028-Opportunities-with-Pyridoxine-as-a-First-Line-Agent-for-Homocystinuria—ResearchAndMarkets.com

  Homocystinuria is more prevalent in Europe than in Asia Pacific and North America. […] According to the National Library of Medicine, the most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people across the globe. Moreover, the disorder is common in various countries such as Germany, Ireland, Norway, and Qatar. In Ireland, the disorder affects 1 in 65,000 people. […] In Germany, homocystinuria affects 1 in 17,800 people, and in Norway, the disorder affects 1 in 6,400 people. Thus, the increase in the prevalence of inherited metabolic disorders is expected to boost the growth of the homocystinuria market worldwide.

• #3 Homocystinuria – EyeWiki

  https://eyewiki.org/Homocystinuria

  The worldwide prevalence of homocystinuria is estimated to be 0.82:100,000 according to clinical records and 1.09:100,000 by neonatal screening. Minimum worldwide incidence is estimated to be ~0.38:100,000 and the incidence has been shown to be higher in non-Finnish Europeans (~0.72:100,000) and Latin Americans (~0.45:100,000) and lower in Africans (~0.20:100,000) and Asians (~0.02:100,000). […] The most important tool for homocystinuria diagnosis is newborn screening, which has high sensitivity to detect many inborn errors of metabolism, including homocystinuria.

• #3 What Is the Etiology of Classic Homocystinuria?

  https://www.icliniq.com/articles/blood-health/classic-homocystinuria

  Classic homocystinuria is the most common type and usually affects people of Celtic origin. It has been seen in 1 of 344,000 people worldwide. However, it is more commonly seen in some countries such as Ireland (1 in 65000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800). All these cases have autosomal recessive patterns, and 50 % are responsive to pyridoxine (vitamin B6). […] Homocystinuria is a rare inherited disorder caused by the increased concentration of homocysteine, a sulfur-containing amino acid in blood and urine. This is a hereditary condition having an autosomal recessive trait, meaning that a child can get a copy of a defective gene from both affected parents. These patients have a deficiency of cystathionine beta-synthase (CBS). Patients affected by this condition usually appear normal at birth but can develop serious complications with time.

• #3 Homocystinuria due to cystathionine beta-synthase deficiency | MedLink Neurology

  https://www.medlink.com/articles/homocystinuria-due-to-cystathionine-beta-synthase-deficiency

  The estimated prevalence of cystathionine beta-synthase deficiency ranges from 1 in 1800 newborns in the state of Qatar and over 1 in 50,000 in Ireland and Kuwait to 1 in 1 million in Japan. […] The overall frequency has been reported to be between 1 in 200,000 and 1 in 335,000. […] Moorthie and colleagues performed a systematic review and metaanalysis and found a worldwide prevalence based on diagnosis of symptomatic individuals of 0.82 in 100,000, whereas the prevalence based on neonatal screening by MS/MS was 1.01 in 100,000 newborns. […] The minimum worldwide prevalence of homocystinuria based on the frequency of the 25 most common pathogenic alleles of homocystinuria in a large genomic database (gnomAD) was estimated to be about 0.38 in 100,000 and was higher in non-Finnish Europeans (approximately 0.72:100,000) and Latin Americans (approximately 0.45:100,000), and lower in Africans (approximately 0.20:100,000) and Asians (approximately 0.02:100,000).

• #4 Homocystinuria Market Size, Trends and Forecast 2025-2035

  https://www.imarcgroup.com/homocystinuria-market

  The global prevalence of homocystinuria is estimated to be 0.82:100,000 based on clinical records and 1.09:100,000 by newborn screening. […] In the United States, homocystinuria affects about one out of every 100,000 people. […] Classic homocystinuria affects between 1 in 200,000 and 335,000 people worldwide. […] Some countries appear to have a higher prevalence of the disease, including Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800).

• #4 Homocystinuria due to cystathionine beta-synthase deficiency | MedLink Neurology

  https://www.medlink.com/articles/homocystinuria-due-to-cystathionine-beta-synthase-deficiency

  The estimated prevalence of cystathionine beta-synthase deficiency ranges from 1 in 1800 newborns in the state of Qatar and over 1 in 50,000 in Ireland and Kuwait to 1 in 1 million in Japan. […] The overall frequency has been reported to be between 1 in 200,000 and 1 in 335,000. […] Moorthie and colleagues performed a systematic review and metaanalysis and found a worldwide prevalence based on diagnosis of symptomatic individuals of 0.82 in 100,000, whereas the prevalence based on neonatal screening by MS/MS was 1.01 in 100,000 newborns. […] The minimum worldwide prevalence of homocystinuria based on the frequency of the 25 most common pathogenic alleles of homocystinuria in a large genomic database (gnomAD) was estimated to be about 0.38 in 100,000 and was higher in non-Finnish Europeans (approximately 0.72:100,000) and Latin Americans (approximately 0.45:100,000), and lower in Africans (approximately 0.20:100,000) and Asians (approximately 0.02:100,000).

• #4 The Spectrum of Mutations of Homocystinuria in the MENA Region

  https://www.mdpi.com/2073-4425/11/3/330

  Homocystinuria is an inborn error of metabolism due to the deficiency in cystathionine beta-synthase (CBS) enzyme activity. The prevalence of homocystinuria is around 1/200,000 births worldwide. However, its prevalence in the Gulf region, notably Qatar, is exceptionally high and reached 1:1800. The establishment of newborn screening programs has successfully decreased the prevalence of homocystinuria and other aminoacidopathies. Yet, the majority of these disorders arise due to consanguineous marriages. The consanguinity rate reached 40% among first cousins in the Middle East and up to 60% in intermarriages between relatives. Therefore, the incidence of genetic disorders, including homocystinuria, has increased. To date, scarce studies reported the incidence rate of CBS in the MENA region. For instance, the reported incidence in Oman is one in approximately 128,200 births, while in Saudi Arabia, the incidence of homocystinuria is two in 100,000 live births. Additionally, in a Kuwait-based study, the frequency of CBS mutation among intellectually disabled patients was 0.23%. In Qatar, the homozygous mutation c.1006C>T (p.R336C), which is found on exon 9 of the CBS gene, a missense mutation in which arginine is replaced by cysteine, consequently resulting in a severe vitamin B6 nonresponsive phenotype. The prevalence of this unique mutation in Qatar is approximately 1:1800 births, where ~6% of the population has a heterozygous p.R336C mutation with an allele frequency of 1%. Although homocystinuria is considered the most prevalent monogenic disease in Qatar, early detection has improved the prevention of some complications, including mental retardation, ectopia lentis, and thromboembolic events.

• #5 WV DHHR – OMCFH – Newborn Metabolic Screening – Homocystinuria

  https://www.wvdhhr.org/nbms/diseases/Homocystinuria.asp

  IncidenceAlthough homocystinuria is a rare disorder, carriers of the condition represent a much larger population. If one assumes a worldwide incidence of 1 in 300000 individuals, the expected carrier frequency is 1 in 135. Because carriers are more prone to thromboembolic events, ascertainment of these individuals via identification of an affected person needs to be emphasized to primary health care professionals.98 […] The incidence in Ireland, Australia, Great Britain, and New England is 1 in 50000, the incidence in Japan is 1 in 1 million, and the worldwide incidence is 1 in 250000. […] Programs continue to evaluate the efficacy of screening and early treatment. Improvement in screening to decrease the numbers of missed cases is important. Recent evidence has shown that carriers (heterozygotes) for homocystinuria have an increased risk of thromboembolic events. Therefore, genetic counseling and screening should be offered to relatives of persons with homocystinuria.

Zobacz więcej