羧化酶合酶缺陷症
Holocarboxylase synthetase deficiency
定义 英文原文（暂无中文）
A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.
别名
早发性多发性羧化酶缺乏
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 患病率
- 1-9 / 1 000 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HLCS | holocarboxylase synthetase | Disease-causing germline mutation(s) (loss of function) in |
临床表型 20
极常见 99–80%9
- 厌食症 HP:0002039
- 生长延迟 HP:0001510
- 肌张力减退 HP:0001252
- 易激惹 HP:0000737
- 角膜结膜炎 HP:0001096
- 恶心和呕吐 HP:0002017
- 口周湿疹 HP:0011127
- 癫痫发作 HP:0001250
- 体重减轻 HP:0001824
常见 79–30%4
- 高氨血症 HP:0001987
- 有机酸尿症 HP:0001992
- 呼吸窘迫 HP:0002098
- 呼吸过速 HP:0002789
偶见 29–5%7
- 脱发 HP:0001596
- 共济失调 HP:0001251
- 昏迷 HP:0001259
- 出生后皮肤剥脱 HP:0007549
- 湿疹样皮炎 HP:0000964
- 昏睡 HP:0001254
- 血小板减少症 HP:0001873
近两年的全球研究 40L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-06开放获取Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review
- 2026-06综述Holocarboxylase synthetase deficiency: pathogenesis, clinical features, diagnosis, treatment, and research prospects
- 2026-05Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders
- 2026-05综述开放获取Natural Molecules for Brain Health and Resilience
- 2026-04开放获取Benchmarking genetic birth prevalence estimates against newborn screening data
- 2026-03开放获取Current Status of Newborn Screening in Southeastern and Central Europe
- 2026-03开放获取Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation
- 2025-12开放获取Associations of Biotin Levels in Serum and Follicular Fluid With ICSI Success: A Cross-Sectional Study From Iraq
- 2025-12综述开放获取Expert consensus on the combined screening of genes and biomarkers for neonatal diseases
- 2025-12开放获取Expanding carrier screening: beyond the genes, to include underrepresented ancestries
- 2025-12综述开放获取Endocrine system disturbances in children with inherited metabolic diseases: a narrative review
- 2025-12综述开放获取Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis
- 2025-12开放获取Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease
- 2025-12开放获取Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes
- 2025-11病例报告开放获取Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1
- 2025-09病例报告开放获取Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis
- 2025-09系统综述开放获取Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands
- 2025-08病例报告开放获取Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
- 2025-07开放获取Determination of Biotin Interference in Pediatric Obesity Related ELISA Research Kits Biotin Interference in Manual ELISA Kits
- 2025-07病例报告开放获取3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach
中国境外的在招试验 1L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
意大利1
共 1 项。
- 招募中NCT06723925Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up意大利
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）