全球遺傳性乳清酸尿症市場（按藥物類型、適應症、分銷管道和地區分類）

2025 年全球遺傳性乳清酸尿症市場規模估計為 3.582 億美元，預計到 2032 年將達到 4.941 億美元，2025 年至 2032 年的複合年成長率為 4.7%。

數字。 2025年遺傳性乳清酸尿症全球市場佔有率（按地區）

遺傳性乳清酸尿症（HOA）是一種非常罕見的先天性嘧啶代謝缺陷。它是由尿苷-5-單磷酸合成酶 (UMPS) 基因缺陷引起的。遺傳性乳清酸尿症是一種極為罕見的遺傳性疾病。如果不及時治療，受影響的兒童可能會出現一種稱為巨幼細胞性貧血的血液疾病（血液學）疾病，以及發育不良，易受感染疾病，並且由於尿液中排出乳清酸，可能會在尿液中形成乳清酸結晶（結晶）。遺傳性乳清酸尿症鮮為人知，因為患有這種疾病的人很少。遺傳性乳清酸尿症是嘧啶生物合成途徑中唯一已知的酵素缺乏症，是由雙功能酶尿苷-5-單磷酸合成酶 (UMPS) 的一種或兩種活性缺陷引起的。 HOA 的原因推測是由於兩個錯義突變導致酵素水平降低和基材結合受損。 UMPS 缺乏會導致乳清酸 (OA) 和乳清酸核苷單磷酸 (OMP) 的積累，最終透過尿液排放。此疾病的特徵是巨幼細胞骨髓對凝血療法有抵抗作用，同時伴隨尿液中乳清酸排泄量明顯增加。

市場動態：

預計預測期內政府針對罕見疾病的舉措將持續增加，推動市場成長。例如，2021年3月，印度政府啟動了國家罕見疾病政策（NPRD），旨在治療罕見疾病患者。 2021 年 NPRD 的主要特徵如下：罕見疾病分為三類，即第 1 類、第 2 類和第 3 類。

• 第一組：可以治療一次的疾病。
• 組別 2：需要長期/終生治療、相對便宜、文獻中已證實效用且需要每年或更頻繁監測的疾病。
• 第 3 組：可以進行明確治療的疾病，但面臨選擇最佳患者以獲得益處、費用極高以及需要終生治療的挑戰。

研究的主要特點

• 本報告對全球遺傳性乳清酸尿症市場進行了詳細分析，並以 2024 年為基準年，展示了預測期（2025-2032 年）的市場規模和復合年成長率。
• 它還強調了各個領域的潛在收益成長機會，並說明了該市場的引人注目的投資提案矩陣。
• 它還提供了有關市場促進因素、限制因素、機會、新產品發布和核准、市場趨勢、區域前景和主要企業採用的競爭策略的主要考察。
• 它根據公司亮點、產品系列、關鍵亮點、績效和策略等參數列出了全球遺傳性乳清酸尿症市場的主要企業概況。
• 本報告的見解將使負責人和公司經營團隊能夠就未來的產品發布、類型升級、市場擴張和行銷策略做出明智的決策。
• 全球遺傳性乳清酸尿症市場報告涉及該行業的各個相關人員，例如投資者、供應商、產品製造商、經銷商、新進入者和金融分析師。
• 相關人員可以透過用於分析全球遺傳性乳清酸尿症市場的各種策略矩陣來促進決策。

目錄

第1章 調查目的與前提條件

• 研究目標
• 先決條件
• 簡稱

第2章 市場展望

• 報告描述
  • 市場定義和範圍
• 執行摘要
• Coherent Opportunity Map（COM）

第3章市場動態、法規與趨勢分析

• 市場動態
• 主要亮點
• 監管情景
• 近期動態
• PEST分析
• 波特分析
• 合併、收購和合作

4. 全球遺傳性乳清酸尿症市場-冠狀病毒（COVID-19）大流行的影響

• COVID-19流行病學
• 供需側分析
• 經濟影響

5. 2020 年至 2032 年全球遺傳性乳清酸尿症市場（依藥物類型）

• 胞苷酸
• 尿苷一磷酸

6. 全球遺傳性乳清酸尿症市場（依適應症分類），2020 年至 2032 年

• 類型 1
• 類型 2

7. 全球遺傳性乳清酸尿症市場（依分銷通路分類），2020 年至 2032 年

• 醫院藥房
• 零售藥局
• 網路藥局

8. 全球遺傳性乳清酸尿症市場（按地區），2020 年至 2032 年

• 北美洲
• 歐洲
• 亞太地區
• 拉丁美洲
• 中東
• 非洲

第9章 競爭態勢

• 公司簡介
  • Merck &Co. Inc
  • SERB Pharmaceuticals

第 10 章 章節

• 參考
• 調查方法
• 關於出版商

Global Hereditary Orotic Aciduria Market is estimated to be valued at USD 358.2 Mn in 2025 and is expected to reach USD 494.1 Mn by 2032, growing at a compound annual growth rate (CAGR) of 4.7% from 2025 to 2032.

Figure. Global Hereditary Orotic Aciduria Market Share (%), By Region 2025

Hereditary orotic aciduria (HOA) is a very rare inborn error of pyrimidine metabolism. It results from a defect of the uridine-5-monophosphate synthase (UMPS) gene. Hereditary orotic aciduria is an extremely rare genetic disorder. When untreated, affected infants can develop a blood (hematologic) disorder called megaloblastic anemia as well as failure to thrive, susceptibility to infection, and orotic acid crystals in the urine (crystalluria), resulting from excretion of orotic acid in the urine. Since, very few individuals have been identified with this disorder, not much is known of hereditary orotic aciduria. It is the only known as the enzyme deficiency of the pyrimidine biosynthetic pathway, resulting from a deficiency in one or both of the activities of the bifunctional enzyme uridine-5-monophosphate synthase (UMPS). The presumed cause of HOA is biallelic missense mutations resulting in decreased levels of the enzyme and impaired substrate binding. UMPS defects lead to the accumulation of orotate (OA) and/or of orotidine monophosphate (OMP), which eventually getsexcreted in the urine. The hallmarks of the disease are a megaloblastic bone marrow that is refractory to hematinic therapy, accompanied by a markedly increased excretion of orotic acid in the urine.

Market Dynamics:

Increasing government initiatives for rare diseases is expected to drive the growth of the market over the forecast period. For instance, in March 2021, the government of India has launched National Policy for Rare Diseases (NPRD) for the treatment of rare disease patients. The salient features of NPRD, 2021 are as under: The rare diseases have been identified and categorized into 3 groups namely Group 1, Group 2 and Group 3.

• Group 1: Disorders amenable to one-time curative treatment.
• Group-2: Diseases requiring long term/lifelong treatment having relatively lower cost of treatment and benefit has been documented in literature and annual or more frequent surveillance is required.
• Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost, and lifelong therapy.

Key features of the study:

• This report provides an in-depth analysis of the global hereditary orotic aciduria market, and provides market size (US$ Mn) and compound annual growth rate (CAGR %) for the forecast period (2025-2032), considering 2024 as the base year.
• It elucidates potential revenue growth opportunities across different segments and explains attractive investment proposition matrices for this market.
• This study also provides key insights about market drivers, restraints, opportunities, new product launches or approvals, market trends, regional outlook, and competitive strategies adopted by key players.
• It profiles key players in the global hereditary orotic aciduria market based on the following parameters - company highlights, products portfolio, key highlights, financial performance, and strategies.
• Key companies covered as a part of this study include Merck & Co. Inc and SERB Pharmaceuticals.
• Insights from this report would allow marketers and the management authorities of the companies to make informed decisions regarding their future product launches, type up-gradation, market expansion, and marketing tactics.
• Global hereditary orotic aciduria market report caters to various stakeholders in this industry including investors, suppliers, product manufacturers, distributors, new entrants, and financial analysts.
• Stakeholders would have ease in decision-making through various strategy matrices used in analyzing the global hereditary orotic aciduria market.

Detailed Segmentation:

• Global Hereditary Orotic Aciduria Market, By Drug Type
  • Cytidine monophosphate
  • Uridine monophosphate
• Global Hereditary Orotic Aciduria Market, By Indication
  • Type 1
  • Type 2
• Global Hereditary Orotic Aciduria Market, By Distribution Channel
  • Hospital Pharmacies
  • Retail Pharmacies
  • Online Pharmacies
• Global Hereditary Orotic Aciduria Market, By Region
  • North America
  • Europe
  • Asia Pacific
  • Latin America
  • Middle East
  • Africa
• Company Profiles
  • Merck & Co. Inc
  • SERB Pharmaceuticals

Table of Contents

1. Research Objectives and Assumptions

• Research Objectives
• Assumptions
• Abbreviations

2. Market Purview

• Report Description
  • Market Definition and Scope
• Executive Summary
  • Global Hereditary Orotic Aciduria Market, By Drug Type
  • Global Hereditary Orotic Aciduria Market, By Indication
  • Global Hereditary Orotic Aciduria Market, By Distribution Channel
  • Global Hereditary Orotic Aciduria Market, By Region
• Coherent Opportunity Map (COM)

3. Market Dynamics, Regulations, and Trends Analysis

• Market Dynamics
  • Government support in the form of funding for rare disease research
  • High cost of treatment
  • Growth opportunities in developing countries
• Key Highlights
• Regulatory Scenario
• Recent Trends
• PEST Analysis
• PORTER's Analysis
• Mergers, Acquisitions, and Collaborations

4. Global Hereditary Orotic Aciduria Market - Impact of Coronavirus (COVID-19) Pandemic

• COVID-19 Epidemiology
• Supply Side and Demand Side Analysis
• Economic Impact

5. Global Hereditary Orotic Aciduria Market, By Drug Type, 2020-2032, (US$ Mn)

• Introduction
  • Market Share Analysis, 2025 and 2032 (%)
  • Y-o-Y Growth Analysis, 2021 - 2032
  • Segment Trends
• Cytidine monophosphate
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, 2020-2032,(US$ Mn)
• Uridine monophosphate
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, 2020-2032,(US$ Mn)

6. Global Hereditary Orotic Aciduria Market, By Indication, 2020-2032, (US$ Mn)

• Introduction
  • Market Share Analysis, 2025 and 2032 (%)
  • Y-o-Y Growth Analysis, 2021 - 2032
  • Segment Trends
• Type 1
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, 2020-2032,(US$ Mn)
• Type 2
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, 2020-2032,(US$ Mn)

7. Global Hereditary Orotic Aciduria Market, By Distribution Channel, 2020-2032, (US$ Mn)

• Introduction
  • Market Share Analysis, 2025 and 2032 (%)
  • Y-o-Y Growth Analysis, 2021 - 2032
  • Segment Trends
• Hospital Pharmacies
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, 2020-2032,(US$ Mn)
• Retail Pharmacies
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, 2020-2032,(US$ Mn)
• Online Pharmacies
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, 2020-2032,(US$ Mn)

8. Global Hereditary Orotic Aciduria Market, By Region, 2020-2032, (US$ Mn)

• Introduction
  • Market Share Analysis, By Region, 2025 and 2032 (%)
  • Y-o-Y Growth Analysis, For Region, 2021 - 2032
  • Country Trends
• North America
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, By Drug Type, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Indication, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Distribution Channel, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Country, 2020-2032,(US$ Mn)
    • U.S.
    • Canada
• Europe
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, By Drug Type, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Indication, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Distribution Channel, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Country, 2020-2032,(US$ Mn)
    • Germany
    • U.K.
    • Spain
    • France
    • Italy
    • Russia
    • Rest of Europe
• Asia Pacific
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, By Drug Type, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Indication, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Distribution Channel, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Country, 2020-2032,(US$ Mn)
    • China
    • India
    • Japan
    • Australia
    • South Korea
    • ASEAN
    • Rest of Asia Pacific
• Latin America
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, By Drug Type, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Indication, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Distribution Channel, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Country, 2020-2032,(US$ Mn)
    • Brazil
    • Argentina
    • Mexico
    • Rest of Latin America
• Middle East
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, By Drug Type, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Indication, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Distribution Channel, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Country, 2020-2032,(US$ Mn)
    • GCC Countries
    • Israel
    • Rest of Middle East
• Africa
  • Introduction
  • Market Size and Forecast, and Y-o-Y Growth, By Drug Type, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Indication, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Distribution Channel, 2020-2032,(US$ Mn)
  • Market Size and Forecast, and Y-o-Y Growth, By Country/Region, 2020-2032,(US$ Mn)
    • North Africa
    • Central Africa
    • South Africa

9. Competitive Landscape

• Company Profile
  • Merck & Co. Inc
• Company Highlights
• Drug Type Portfolio
• Key Highlights
• Financial Performance
• Strategies
  • SERB Pharmaceuticals
• Company Highlights
• Drug Type Portfolio
• Key Highlights
• Financial Performance
• Strategies
• Analyst Views

10. Section

• References
• Research Methodology
• About us