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Refsum Disease Market Shares Analysis, Key Development Strategies and Forecasts Till 2023 Refsum Disease is a genetic disorder which is inherited as an autosomal recessive trait. The condition is characterized by progressive loss of vision (retinitis pigmentosa), failure of muscle coordination (ataxia), degenerative nerve disease (peripheral neuropathy), and dry, rough, scaly skin (ichthyosis). The accumulation of fatty acid (phytanic acid) in blood plasma and tissues is the main cause of refsum disease. This occurs due to malfunction of the enzyme producing gene that metabolizes phytanic acid. According to the U.S. National Library of Medicine, more than 90 % cases of refsum disease result from the mutations in PHYH gene, and the remaining cases are caused by mutations in a gene PEX7 gene. Notably, increasing awareness among people is the key factor driving the refsum disease market. According to the National Organization of Rare Diseases, the age of onset of refsum disorder varies greatly. The disease can occur at any time from early childhood to nearly 50 years of age, but in most cases will have appeared by age 20. Males and females are equally affected in numbers. Various other push factors such as increasing awareness among people, increasing government assistance, improving regulatory framework, and rising funding and reimbursement continuously contributing to the growth of the global refsum disease market. Despite these drivers, there are some issues associated with refsum disease market. Some of the challenges in research and development, and poor healthcare system in low and middle-income countries may hinder the growth of the market to some extent. It is estimated that the refsum disease market is expected to grow at a CAGR 5.4% during the forecast period of 2017-2023. Get Exclusive PDF Sample Report @ Top Players: 

Fresenius Kabi

B. Braun Medical Inc.

Medline Industries, Inc.

Illumina, Inc.

Igenomix, Ceuta Healthcare Limited.

Cochlear Ltd.



William Demant Holding A/S

Nurotron Biotechnology Co. Ltd.

Agilent Technologies

Bio-Rad Laboratories, Inc.

Sequenom and others

 Intended Audience: 

Pharmaceutical Companies

Hospitals & Clinics

Research and Development (R&D) Companies

Diagnostic Laboratories


Government Research Institute


Academic Institutes and Universities

Segments for Global Refsum Disease Market: The global refsum disease market is segmented on the basis of type, diagnosis, treatment, and end-user. On the basis of the type, the market is segmented into adult refsum disease, and others. The adult refsum disease is further segmented into adult refsum disease 1, and adult refsum disease 2. On the basis of the diagnosis, the market is classified into physical examination, molecular genetic testing, prenatal screening tests, preimplantation genetic diagnosis, enzyme analysis, anosmia testing, and others. The molecular genetic testing is further segmented into genotyping, sequencing of gene, amplification or hybridization method, methylation-specific techniques, and others. The prenatal screening tests are further segmented into ultrasound, blood tests, chorionic villus sampling (CVS), amniocentesis, and others. On the basis of the treatment, the market is classified as medical care, and surgical care. The medical care is further segmented into diet, plasmapheresis, and medication. The sub-segments of medication include keratolytics, and others. On the basis of the end-user, the market is segmented into hospital, clinics, diagnostic centers, research & academic institutes, and others. Regional Analysis for Global Refsum Disease Market: The Americas dominate the refsum disease market owing to the rising awareness among people, and high healthcare expenditure. According to the Centers for Disease Control and Prevention in 2015, the total health expenditure in the United States was reported to be USD 3.2 trillion and hospital care accounted for a share of 32.3% Europe holds the second position in the refsum disease market. It is expected that the support provided by the government bodies for research & development and improvement in reimbursement policies in healthcare is likely to drive the market of Europe region. The Asia Pacific is the fastest growing refsum disease market owing to a huge patient pool and developing healthcare technology. Healthcare expenditure is also improving in various Asia Pacific countries. According to the Australian Institute of Health and Welfare in the years 2015-2016, the total health expenditure was USD 170.4 billion, 3.6% higher than the expenditure of 2014-2015. The Middle East & Africa holds the lowest market due to lack of technical knowledge and poor medical facilities. Get Prime Discount on Report @ Some Brief Table of Contents of Report Chapter 1. Report Prologue Chapter 2. Market Introduction 2.1 Definition 2.2 Scope Of The Study 2.2.1 Research Objective 2.2.2 Assumptions 2.2.3 Limitations Chapter 3. Research Methodology 3.1 Introduction 3.2 Primary Research

3.3 Secondary Research 3.4 Market Size Estimation Chapter 4. Market Dynamics 4.1 Drivers 4.2 Restrains 4.3 Opportunities 4.4 Challenges 4.5 Macroeconomic Indicators 4.6 Technology Trends & Assessment Chapter 5. Market Factor Analysis 5.1 Porters Five Forces Analysis 5.1.1 Bargaining Power Of Suppliers 5.1.2 Bargaining Power Of Buyers 5.1.3 Threat Of New Entrants TOC Continued‌ Do You Have Specific Requirement? Ask To Our Experts@ About Market Research Future: At Market Research Future (MRFR), we enable our customers to unravel the complexity of various industries through our Cooked Research Report (CRR), Half-Cooked Research Reports (HCRR), Statistical Report, Continuous-Feed Research (CFR), and Market Research & Consulting Services. Market Research Future Hadapsar, Pune – 411028 Maharashtra, India Phone: +1 646 845 9312 Email:

Refsum Disease Market Forecasts by Industry Drivers, Regions Till 2023  
Refsum Disease Market Forecasts by Industry Drivers, Regions Till 2023