A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis [0.03%]
CA5A基因新缺失突变导致碳酸酐酶VA缺乏病一名无代谢危象的发育迟缓患儿
Maryam F Bin Hadyan,Mohammed A Saleh,Saad Aldalaqan et al.
Maryam F Bin Hadyan et al.
Background: Carbonic anhydrase VA deficiency is a rare autosomal recessive disorder caused by biallelic mutations in the CA5A gene. Patients present with acute metabolic decompensation including hyperammonemia in infancy ...
Clinical implications of a novel SERPINA1 variant c.236 T > A: Challenges in characterizing new rare alpha-1 antitrypsin mutations [0.03%]
新型SERPINA1变异体c.236T>A的临床意义：表征新的罕见α-1抗胰蛋白酶突变的挑战
Arturo Olivares-Rivera,Hilal Ersöz,Philipp Höger et al.
Arturo Olivares-Rivera et al.
Severe alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition characterized by low levels of alpha-1 antitrypsin (AAT), leading to progressive lung and/or liver disease. Most severe cases are linked to the Z allele (c.1096G > A (...
Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries [0.03%]
九型糖原贮积病的长期随访——来自欧洲三国的52例患者分析
Martin Magner,Robert Šáhó,Petra Slavíková et al.
Martin Magner et al.
Glycogen storage disease type IX (GSD IX) arises from hepatic phosphorylase b kinase (PhK) deficiency attributable to pathogenic variants in the PHKA2, PHKB, and PHKG2 genes. This multicenter retrospective study evaluated clinical and bioch...
Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup [0.03%]
埃及儿童酸性鞘磷脂酶缺乏症患者的奥利普达司α治疗：一项前瞻性观察队列研究及其中的干预亚组分析
Nehal Abdelaziz Arafa,Aml Mahfouz,Shimaa Anwar et al.
Nehal Abdelaziz Arafa et al.
Objectives: To present key features of pediatric acid sphingomyelinase deficiency (ASMD) and assess the clinical and safety outcomes of enzyme replacement therapy with olipudase alfa. ...
Intermittent ketogenic fasting with medium-chain triglycerides improves ataxia in COQ8A-related coenzyme Q10 deficiency: A case report [0.03%]
中链三酰甘油间歇性生酮断食可改善COQ8A相关辅酶Q10缺乏症患者的共济失调：病例报告
Wiebke Hahn,Karla Erffmeier,Maximilian Schulze et al.
Wiebke Hahn et al.
Background: Mutations in COQ8A cause primary coenzyme Q10 deficiency, which can present clinically heterogeneously: Symptoms range from cerebellar ataxia, epilepsy, encephalomyopathy, macular degeneration to nephropathy. ...
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD) [0.03%]
短链酰基辅酶a脱氢酶缺乏症（SCADD）的新生儿筛查、基因分析及89例长期随访研究
GuLing Qian,Chen Liu,YanHua Xu et al.
GuLing Qian et al.
Objective: This study aimed to delineate the neonatal screening landscape, incidence, tandem mass spectrometry (MS/MS)-based metabolic signatures, ACADS gene variant spectrum, and long-term clinical outcomes of short-chai...
Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood [0.03%]
甲基丙二酸血症患者线粒体功能障碍的初步研究：基于外周血的新型检测技术评估线粒体呼吸和代谢参数的研究
Sinziana Stanescu,Olatz Villate,Fernando Andrade et al.
Sinziana Stanescu et al.
Introduction: Isolated methylmalonic acidemia (MMA) is an inborn error of metabolism due to the deficiency of the methylmalonic mutase enzyme. Many patients develop chronic complications such as basal ganglia lesions or k...
Comment on: Lee J.Z.C. et al. Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment. Mol Genet Metab Rep. 2025;9;43:101224 [0.03%]
关于 Lee J.Z.C. 等人的病例报告的评论：在 Pyridoxamine 5-磷酸氧化酶 (PNPO) 缺陷并接受吡哆醛 5'-磷酸 (PLP) 治疗的患者中肝细胞癌的发生。 Mol Genet Metab Rep. 2025;9;43:101224
P De Liso,R Webster,B Plecko et al.
P De Liso et al.
Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease [0.03%]
高分辨率质谱检测在枫糖尿病诊断及急性处理中的应用
Rafael Garrett,Sara Pickett,Melinda J Peters et al.
Rafael Garrett et al.
The current approach for investigating patients with suspected inborn errors of metabolism (IEMs) involves traditional targeted biochemical assays such as amino/organic acid analyses. Although highly effective for confirmatory testing, they...
Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome [0.03%]
关于艾洛珠单抗在摩-奎奥综合征不能行走患者中的作用的临床专家意见
Carolina F M de Souza,Barbara K Burton,Philippe M Campeau et al.
Carolina F M de Souza et al.
Background: Morquio A syndrome is associated with progressive loss of ambulatory capacity. The impact of elosulfase alfa enzyme replacement therapy (ERT), the approved treatment for Morquio A, remains understudied in non-...