Homocystinuria is a genetic condition in which the body is unable to metabolize certain protein building blocks. Amino acids are the smallest building units that make up protein. Normally, body converts these acids into energy for all of the activities. Methionine is broken down by a specific enzyme in the body and if any individual has homocystinuria the enzyme either is not produced or it isn't acting properly. Homocystinuria is caused by a genetic mutation that is passed down from parents who do not have any signs of the disease. Autosomal recessive inheritance describes how this mutation is carried along. The most prevalent form of homocystinuria is caused by mutations in the CBS gene. The CBS gene directs the production of an enzyme known as cystathionine beta-synthase. This enzyme is responsible for converting the amino acid homocysteine to a compound called cystathionine through a chemical pathway. Any mutation in these genes causes the enzymes to stop working properly, resulting in a buildup of homocysteine in the body. The exact mechanism by which excess homocysteine and related chemicals cause the signs and symptoms of homocystinuria is unknown.
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Global Homocystinuria Market Share in 2021, By Region
The detailed research study provides qualitative and quantitative analysis of global homocystinuria market. The market has been analyzed from demand as well as supply side. The demand side analysis covers market revenue across regions and further across all the major countries. The supply side analysis covers the major market players and their regional and global presence and strategies. The geographical analysis done emphasizes on each of the major countries across North America, Europe, Asia Pacific, Middle East & Africa and Latin America.
Key Findings – Global Homocystinuria Market
- There are various symptoms for homocystinuria such as myopia, abnormal blood clots, osteoporosis, intellectual disabilities, seizures and many others. The most common symptoms of homocystinuria are nearsightedness (myopia), displacement of the front lens of the eye, a higher risk of irregular blood clotting, and brittle bones prone to fracture (osteoporosis) or other skeletal abnormalities. Intellectual impairment, developmental delay (failure to grow and gain weight at the expected rate), seizures, mobility issues, and a blood ailment termed megaloblastic anaemia are all symptoms of less prevalent forms of homocystinuria. Homocystinuria signs and symptoms usually appear within the first year of life, while some minimally affected individuals may not show symptoms until later in childhood or adulthood. Thus, these factors are driving the demand of homocystinuria market.
- On the basis of the identification of typical symptoms, a diagnosis of homocystinuria due to CBS deficiency may be suspected. A thorough clinical evaluation, a full patient history, and a variety of specialist testing can all help confirm a diagnosis. Moreover, to confirm a diagnosis of homocystinuria, tests that identify high amounts of homocysteine, methionine, or homocysteine in the plasma or urine may be utilized. To confirm their diagnosis, people usually undergo genetic testing to search for abnormalities in both copies of the CBS gene. Tests can be performed to measure the degree of enzyme function in specific cells of the body to confirm CBS insufficiency in the past, and occasionally present. Newborn screening programmes can also detect homocystinuria owing to CBS deficiency. Newborn screening programmes exist in almost every state, and they test babies for a variety of metabolic abnormalities. Even if the infant has CBS deficiency, newborn screening for homocystinuria owing to CBS deficiency normally evaluates methionine levels, which are not always increased enough to be considered abnormal immediately after birth. Blood and urine tests may be used to diagnose homocystinuria in a kid or adult who has had their lens dislocated. A kid or adult with a blood clot, especially if it occurs at a young age, may also be examined for homocystinuria. The advancements in the testing methods have led to the growth of global homocystinuria market.
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- The aim of treatment for homocystinuria caused by CBS deficiency is to avoid or reduce the symptoms of the condition by lowering homocysteine levels in the blood's fluid part. Treatment options include pyridoxine (vitamin B6) therapy, a low-protein, low-methionine diet, betaine therapy, and folate (vitamin B9). A pyridoxine response test may be performed first on those who are affected. Pyridoxine treatment is helpful in lowering homocysteine and methionine levels in the body in roughly 50% of people. Folate levels must be normal to determine whether an individual is sensitive to pyridoxine therapy, and some individuals may require folate supplements. Individuals who are not diagnosed with homocystinuria owing to CBS deficiency until childhood, adolescence, or adulthood and who do not react to pyridoxine therapy may still require a low-protein, low-methionine diet, which can be difficult to maintain due to taste variations. Individuals on this diet must consume methionine-free supplemental metabolic meals, which are usually in the form of a formula, in order to obtain other important amino acids. Moreover, leading players in the market are introducing various medications and treatments for homocystinuria. Thus, with these advancements in treatments the global homocystinuria market is expected to upsurge in the upcoming years.
- Asia Pacific region is anticipated to be the fastest growing segment in the homocystinuria market for the forecast period 2022-2030. Over the last few years there has been a tremendous rise in awareness about symptoms and signs for homocystinuria. Hospitals and government healthcare organizations are encouraging people to carry out tests to detect homocystinuria at early stages. Moreover, hospitals have initiated the newborn screening tests for homocystinuria so that timely treatments can be introduced for better results. Furthermore, with the rising number of prelevance leading players in the market are focused on expanding to Asia Pacific region. Thus, with the above factors mentioned the homocystinuria market is expected to flourish in the Asia Pacific region during the forecast period 2022-2030.
A few of the major players operating in the global homocystinuria market are mentioned below:
- Aeglea BioTherapeutics
- AGRANA Beteiligungs-AG
- AMINO GmbH
- Chemkart
- MYLAN N.V
- Rare Disease Therapeutics, Inc.
- Recordati Rare Diseases Inc
- SVB Financial Group
- Other Industry Participants
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Global Homocystinuria Market:
By Symptoms
- Myopia
- Abnormal blood clots
- Brittle Bones
- Intellectual disabilities
- Seizures
- Others
By Diagnosis
- Blood and Urine testing
- Genetic Testing
- Liver Biopsy
- X-rays
- Others
By Drug Treatment
- Pyridoxine
- Betaine
- Others
By Region
- North America
- U.S
- Canada
- Mexico
- Rest of North America
- Europe
- France
- The UK
- Spain
- Germany
- Italy
- Nordic Countries
- Denmark
- Finland
- Iceland
- Sweden
- Norway
- Benelux Union
- Belgium
- The Netherlands
- Luxembourg
- Rest of Europe
- Asia Pacific
- China
- Japan
- India
- New Zealand
- Australia
- South Korea
- Southeast Asia
- Indonesia
- Thailand
- Malaysia
- Singapore
- Rest of Southeast Asia
- Rest of Asia Pacific
- Middle East and Africa
- Saudi Arabia
- UAE
- Egypt
- Kuwait
- South Africa
- Rest of Middle East & Africa
- Latin America
- Brazil
- Argentina
- Rest of Latin America
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