Pyruvate Dehydrogenase Deficiency Market

Market Overview:

The 7 major pyruvate dehydrogenase deficiency markets reached a value of USD 5.8 Million in 2024. Looking forward, IMARC Group expects the 7MM to reach USD 11.3 Million by 2035, exhibiting a growth rate (CAGR) of 6.19% during 2025-2035.

The pyruvate dehydrogenase deficiency market has been comprehensively analyzed in IMARC's new report titled "Pyruvate Dehydrogenase Deficiency Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035". PDD is an uncommon genetic disorder due to a deficiency of the pyruvate dehydrogenase complex (PDC), a vital enzyme involved in cellular energy metabolism. The enzymatic deficiency impairs the conversion of pyruvate to acetyl-CoA, resulting in the accumulation of lactic acid and resultant metabolic acidosis. The disorder is X-linked in inheritance and shows a broad spectrum of manifestations such as developmental delay, decreased muscle tone, seizures, ataxia, and progressive neurological deterioration. Diagnoses of PDD are made with a combination of biochemical, genetic, and neuroimaging testing. Plasma and CSF lactate and pyruvate elevations are important biomarkers. Enzyme activity measurements and next-generation sequencing (NGS) facilitate the documentation of genetic mutations in PDC-related genes. Furthermore, MRI scans often detect structural brain abnormalities, e.g., cerebral atrophy or basal ganglia lesions, indicative of mitochondrial failure. Accurate and early diagnosis is vital to the control of disease progression and better patient outcomes.

The escalating cases of human papillomavirus (HPV) infection, which can cause changes in the cellular structure and DNA, thereby leading to the development of precancerous lesions, are primarily driving the pyruvate dehydrogenase deficiency market. Additionally, the rising prevalence of various associated risk factors, including engaging in sexual activity at an early age, weakened immune system, long-term use of oral contraceptives, multiple sexual partners, a history of sexually transmitted infections (STIs), etc., is also creating a positive outlook for the market. Moreover, the widespread adoption of immune checkpoint inhibitors, such as pembrolizumab and nivolumab, which block certain proteins in cancer cells, allowing the immune system to recognize and destroy cancer cells more effectively, is further bolstering the market growth. Apart from this, the inflating application of adaptive radiation therapy, since it allows for precise radiation delivery, thereby minimizing damage to healthy tissue while maximizing tumor control, is acting as another significant growth-inducing factor. Additionally, the shifting preferences from conventional pap smears towards liquid-based cytology on account of its several associated benefits, including better cell preservation and reduced specimen variability, are expected to drive the pyruvate dehydrogenase deficiency market during the forecast period.

IMARC Group's new report provides an exhaustive analysis of the pyruvate dehydrogenase deficiency market in the United States, EU4 (Germany, Spain, Italy, and France), United Kingdom, and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc. The report also provides the current and future patient pool across the seven major markets. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario, unmet medical needs, etc., have also been provided in the report. This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the pyruvate dehydrogenase deficiency market in any manner.

Recent Developments:

• In January 2025, the FDA accepted Saol Therapeutics' SL1009 (sodium dichloroacetate) for Priority Review, targeting energy production in PDD. The PDUFA date is set for May 27, 2025.
• In June 2024, Mount Sinai researchers identified propionate as a potential therapy, improving neurological outcomes and extending lifespan in PDD mice when combined with a modified ketogenic diet.
• In September 2024, a case report highlighted the risk of ketoacidosis in PDD patients on a ketogenic diet, emphasizing the need for individualized dietary management and careful monitoring.
• In March 2023, a study showed that vitamin B1 supplementation with a ketogenic diet improved mitochondrial function and metabolic profiles in an infant with PDD, supporting its therapeutic potential.

Key Highlights:

• Pyruvate dehydrogenase deficiency affects around 1 in 40,000 live births annually in North America, making it a rare but serious mitochondrial disorder impacting carbohydrate metabolism.
• Most cases result from PDHA1 gene mutations, with fewer linked to PDHB, DLAT, and PDHX, affecting mitochondrial energy production.
• Key symptoms include hypotonia, developmental delay, ventriculomegaly, corpus callosum abnormalities, seizures, Leigh syndrome, and ataxia, with severity varying among patients.
• Nearly 40% of affected infants die before three months, 60% before one year, and 90% before four years, highlighting its severity.
• Ketogenic diet shows benefits, reducing seizures, improving motor skills, enhancing cognitive functions, lowering hospitalizations, and increasing survival rates in PDCD patients.

Drugs:

Dichloroacetate (SL1009) by Saol Therapeutics is an oral therapy in pre-registration for Pyruvate Dehydrogenase Complex Deficiency (PDCD). It works by inhibiting pyruvate dehydrogenase kinase, enhancing mitochondrial function. With FDA designations, including Orphan Drug and Fast Track, SL1009 is under Priority Review for potential approval in PDCD treatment.

Time Period of the Study

• Base Year: 2024
• Historical Period: 2019-2024
• Market Forecast: 2025-2035

Countries Covered

• United States
• Germany
• France
• United Kingdom
• Italy
• Spain
• Japan

Analysis Covered Across Each Country

• Historical, current, and future epidemiology scenario
• Historical, current, and future performance of the pyruvate dehydrogenase deficiency market
• Historical, current, and future performance of various therapeutic categories in the market
• Sales of various drugs across the pyruvate dehydrogenase deficiency market
• Reimbursement scenario in the market
• In-market and pipeline drugs

Competitive Landscape:

This report also provides a detailed analysis of the current pyruvate dehydrogenase deficiency marketed drugs and late-stage pipeline drugs.

In-Market Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

Late-Stage Pipeline Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

*Kindly note that the drugs in the above table only represent a partial list of marketed/pipeline drugs, and the complete list has been provided in the report.

Key Questions Answered in this Report:

Market Insights

• How has the pyruvate dehydrogenase deficiency market performed so far and how will it perform in the coming years?
• What are the markets shares of various therapeutic segments in 2024 and how are they expected to perform till 2035?
• What was the country-wise size of the pyruvate dehydrogenase deficiency market across the seven major markets in 2024 and what will it look like in 2035?
• What is the growth rate of the pyruvate dehydrogenase deficiency market across the seven major markets and what will be the expected growth over the next ten years?
• What are the key unmet needs in the market?

Epidemiology Insights

• What is the number of prevalent cases (2019-2035​) of pyruvate dehydrogenase deficiency across the seven major markets?
• What is the number of prevalent cases (​2019-2035​) of pyruvate dehydrogenase deficiency by age across the seven major markets?
• What is the number of prevalent cases (​2019-2035​) of pyruvate dehydrogenase deficiency by gender across the seven major markets?
• How many patients are diagnosed (​2019-2035​) with pyruvate dehydrogenase deficiency across the seven major markets?
• What is the size of the pyruvate dehydrogenase deficiency patient pool (2019-2024) across the seven major markets?
• What would be the forecasted patient pool (2025-2035) across the seven major markets?
• What are the key factors driving the epidemiological trend of pyruvate dehydrogenase deficiency?
• What will be the growth rate of patients across the seven major markets?

Pyruvate Dehydrogenase Deficiency: Current Treatment Scenario, Marketed Drugs and Emerging Therapies

• What are the current marketed drugs and what are their market performance?
• What are the key pipeline drugs and how are they expected to perform in the coming years?
• How safe are the current marketed drugs and what are their efficacies?
• How safe are the late-stage pipeline drugs and what are their efficacies?
• What are the current treatment guidelines for pyruvate dehydrogenase deficiency drugs across the seven major markets?
• Who are the key companies in the market and what are their market shares?
• What are the key mergers and acquisitions, licensing activities, collaborations, etc. related to the pyruvate dehydrogenase deficiency market?
• What are the key regulatory events related to the pyruvate dehydrogenase deficiency market?
• What is the structure of clinical trial landscape by status related to the pyruvate dehydrogenase deficiency market?
• What is the structure of clinical trial landscape by phase related to the pyruvate dehydrogenase deficiency market?
• What is the structure of clinical trial landscape by route of administration related to the pyruvate dehydrogenase deficiency market?