Galactosemia is a group of inherited metabolic disorders characterized by the body’s inability to produce a sufficient amount of enzymes to process galactose. The mostly commonly insufficient enzymes are GALT, GALK, and GALE. Patients are identified at birth through newborn screening (NBS) and are immediately put on a restricted diet, which is the only available treatment. However, dietary restriction does not always prevent long-term complications. Galactosemia is characterized by a varied phenotypic spectrum, ranging from normal development to severe complications, such as jaundice, cataracts, failure to thrive, bacterial sepsis, learning difficulties, neurological impairment, primary ovarian insufficiency (POI), and liver and kidney disease. Some therapies with novel mechanisms of action are in early clinical development and, if efficacious, stand to capitalize on the immense unmet need for effective therapies in this space.


  •  What are the key unmet needs and opportunities in the galactosemia therapy market?
  • What is the incidence of galactosemia in the United States? How are the total diagnosed cases segmented by subtype?
  • How are galactosemia patients currently treated in the United States?
  • What is the expected impact of new therapies launching for galactosemia?
  • How does each current and future player influence the market, and how will this scenario change in the future?
  • What are the key drivers and limiters of the galactosemia therapy market?


United States


3 KOL interviews in May 2020


Applied Therapeutics, Moderna Therapeutics


AT-007, GALT mRNA, salubrinal, GALK1 inhibitors


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Table of contents

  • Galactosemia - Executive Insights - Executive Insights (US)
    • EI-Galactosemia-2020

Author(s): Archita Kukreja; Nishant Kumar, MPH

Archita is a member of Decision Resources Group’s Infectious, Niche, and Rare Diseases (INRD) team. In this role she works on a range of antibacterial and antiviral indications as well as numerous niche and rare diseases.

Archita holds a Masters in Science degree in biotechnology from Jamia Millia Islamia, New Delhi and has completed her MBA from Amity University, Noida.

Nishant is a senior epidemiologist and head of oncology within the epidemiology team at Decision Resources Group. He also covers some CNS diseases, including Alzheimer’s disease and dementia. His key interests are developing interactive patient flows, and modelling disease progression to forecast commercially relevant drug-treatable incident and prevalent populations. Nishant also spends a lot of time collaborating with clients to help answer more specific questions through custom work and consulting projects.

His qualifications include an MSc in Public Health with specialization in epidemiology and statistics from King’s College London, and a BSc in Medical Studies from the University of Birmingham.