Homocystinuria Market Size, Trends and Growth Analysis by 2027

The homocystinuria market is anticipated to grow significantly, reaching an estimated US$ 73.96 million by 2028, up from US$ 56.58 million in 2021. This growth represents a compound annual growth rate (CAGR) of 3.9% from 2021 to 2028.

This report outlines the prevailing trends within the market and identifies key factors contributing to its expansion. The primary drivers of market growth include the increasing incidences of vitamin B6 and B12 deficiencies, alongside a rise in the prevalence of inherited metabolic disorders. Conversely, the market faces challenges due to a general lack of awareness regarding rare disorders and inherited metabolic conditions, which can hinder growth.

Inherited metabolic disorders encompass a range of conditions, including lysosomal storage disorders, Gaucher disease, phenylketonuria, glycogen storage diseases, mitochondrial disorders, and homocystinuria itself. These disorders are typically transmitted through autosomal recessive inheritance patterns. Notably, homocystinuria is more frequently observed in Europe compared to the Asia Pacific and North America regions. According to the National Library of Medicine, the most prevalent form of homocystinuria affects approximately 1 in 200,000 to 335,000 individuals globally. The disorder is particularly common in several countries, including Germany, Ireland, Norway, and Qatar. For instance, in Ireland, the incidence is about 1 in 65,000, while in Germany, it is 1 in 17,800, and in Norway, it affects 1 in 6,400 individuals. Therefore, the rising prevalence of inherited metabolic disorders is expected to significantly enhance the growth of the homocystinuria market on a global scale.

The global homocystinuria market is categorized based on method into two main segments: treatment and diagnostics. In 2021, the treatment segment commanded a larger share of the market. Furthermore, this segment is projected to experience a higher CAGR during the forecast period, driven by the ongoing use of existing treatments and the increasing research and development efforts aimed at discovering new therapies for homocystinuria. The treatment segment is further divided into subcategories, including pyridoxine, betaine, and other treatment options. On the other hand, the diagnostics segment is subdivided into genetic testing, amino acid screening tests, liver enzyme tests, and additional diagnostic methods.

By end-user, the homocystinuria market is segmented into hospitals and clinics, diagnostic and imaging laboratories, specialty clinics, and academic and research institutions. In 2021, the diagnostics and imaging laboratories segment held the largest market share. This segment is also expected to achieve the highest CAGR of 4.2% during the period from 2021 to 2028, primarily due to the increasing diagnosis rates of inherited metabolic disorders within these laboratories.

To compile this report on the homocystinuria market, several key primary and secondary sources were consulted. These include reputable organizations such as the National Center for Health Statistics, Indian Council of Medical Research, Centers for Disease Control and Prevention (CDC), National Center for Biotechnology Information (NCBI), Industrial Biotechnology Leadership Forum, and the World Health Organization.

For further information on homocystinuria, you can visit the following resources:

• Metabolic.ie - Homocystinuria Information


• NHS - Homocystinuria Overview


• HCU Network America - Diagnosis Information


• Rare Diseases - Homocystinuria Details


• NIH - Metabolic Disorders