全球遗传性乳清酸尿症市场（按药物类型、适应症、分销管道和地区划分）

2025 年全球遗传性乳清酸尿症市场规模估计为 3.582 亿美元，预计到 2032 年将达到 4.941 亿美元，2025 年至 2032 年的复合年增长率为 4.7%。

数字。 2025年遗传性乳清酸尿症全球市场占有率（按地区）

遗传性乳清酸尿症（HOA）是一种非常罕见的先天性嘧啶代谢缺陷。它是由尿苷-5-单磷酸合成酶 (UMPS) 基因缺陷引起的。遗传性乳清酸尿症是一种极为罕见的遗传性疾病。如果不及时治疗，受影响的儿童可能会出现一种称为巨幼细胞性贫血的血液疾病（血液学）疾病，以及发育不良，易受感染疾病，并且由于尿液中排出乳清酸，可能会在尿液中形成乳清酸结晶（结晶）。遗传性乳清酸尿症鲜为人知，因为患有这种疾病的人很少。遗传性乳清酸尿症是嘧啶生物合成途径中唯一已知的酵素缺乏症，是由双功能酶尿苷-5-单磷酸合成酶 (UMPS) 的一种或两种活性缺陷引起的。 HOA 的原因推测是由于两个错义突变导致酵素水平降低和基材结合受损。 UMPS 缺乏会导致乳清酸 (OA) 和乳清酸核苷单磷酸 (OMP) 的积累，最终透过尿液排放。此疾病的特征是巨幼细胞骨髓对凝血疗法有抵抗作用，同时伴随尿液中乳清酸排泄量明显增加。

市场动态：

预计预测期内政府针对罕见疾病的倡议将持续增加，推动市场成长。例如，2021年3月，印度政府启动了国家罕见疾病政策（NPRD），旨在治疗罕见疾病患者。 2021 年 NPRD 的主要特征如下：罕见疾病分为三类，即第 1 类、第 2 类和第 3 类。

• 第一组：可以治疗一次的疾病。
• 组别 2：需要长期/终生治疗、相对便宜、文献中已证实效用且需要每年或更频繁监测的疾病。
• 第 3 组：可以进行明确治疗的疾病，但面临选择最佳患者以获得益处、费用极高以及需要终生治疗的挑战。

研究的主要特点

• 本报告对全球遗传性乳清酸尿症市场进行了详细分析，并以 2024 年为基准年，展示了预测期（2025-2032 年）的市场规模和復合年增长率。
• 它还强调了各个领域的潜在收益成长机会，并说明了该市场的引人注目的投资提案矩阵。
• 它还提供了有关市场驱动因素、限制因素、机会、新产品发布和核准、市场趋势、区域前景和主要企业采用的竞争策略的主要考察。
• 它根据公司亮点、产品系列、关键亮点、绩效和策略等参数列出了全球遗传性乳清酸尿症市场的主要企业概况。
• 本报告的见解将使负责人和公司经营团队能够就未来的产品发布、类型升级、市场扩张和行销策略做出明智的决策。
• 全球遗传性乳清酸尿症市场报告涉及该行业的各个相关人员，例如投资者、供应商、产品製造商、经销商、新进入者和金融分析师。
• 相关人员可以透过用于分析全球遗传性乳清酸尿症市场的各种策略矩阵来促进决策。

目录

第一章 调查目的与前提条件

• 研究目标
• 先决条件
• 简称

第二章 市场展望

• 报告描述
  • 市场定义和范围
• 执行摘要
• Coherent Opportunity Map（COM）

第三章市场动态、法规与趋势分析

• 市场动态
• 主要亮点
• 监管情景
• 近期动态
• PEST分析
• 波特分析
• 合併、收购和合作

4. 全球遗传性乳清酸尿症市场-冠状病毒（COVID-19）大流行的影响

• COVID-19流行病学
• 供需侧分析
• 经济影响

5. 2020 年至 2032 年全球遗传性乳清酸尿症市场（依药物类型）

• 胞苷酸
• 尿苷一磷酸

6. 全球遗传性乳清酸尿症市场（依适应症划分），2020 年至 2032 年

• 类型 1
• 类型 2

7. 全球遗传性乳清酸尿症市场（依分销通路划分），2020 年至 2032 年

• 医院药房
• 零售药局
• 网路药局

8. 全球遗传性乳清酸尿症市场（按地区），2020 年至 2032 年

• 北美洲
• 欧洲
• 亚太地区
• 拉丁美洲
• 中东
• 非洲

第九章 竞争态势

• 公司简介
  • Merck &Co. Inc
  • SERB Pharmaceuticals

第 10 章 章节

• 参考
• 调查方法
• 关于出版商

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