Human d-Glycerate Kinase, Encoded by GLYCTK and Deficient in d-Glyceric Aciduria, Is a Mitochondrial Enzyme [0.03%]
GLYCTK编码的、d-甘油酸尿症相关的d-甘油酸激酶是一个线粒体蛋白
Anne Korwitz-Reichelt,Daniel Schulke,Melanie Walter et al.
Anne Korwitz-Reichelt et al.
d-glyceric aciduria is a very rare inborn error of serine and fructose metabolism which is caused by d-glycerate kinase (GLYCTK) deficiency. So far, 18 individuals with this tentative diagnosis have been reported. Patients present with a wi...
Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X-Linked Adrenoleukodystrophy [0.03%]
X连锁肾上腺脑白质营养不良男性患者性功能障碍与低睾酮血症和脊髓病的关系
Stephanie I W van de Stadt,Aimy M A Wessel,Mirjam Langeveld et al.
Stephanie I W van de Stadt et al.
X-linked adrenoleukodystrophy (ALD) is a genetic disorder with neurological and endocrine manifestations, including myelopathy and hypergonadotropic hypogonadism. Many patients experience sexual dysfunction but the underlying cause has not ...
Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism [0.03%]
基因校正最常见的原发性高草酸尿症致病突变以恢复其酶定位和草酸盐代谢功能
Timo Keskinen,Sami Jalil,Irem Gümüşoğlu et al.
Timo Keskinen et al.
Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to o...
Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders [0.03%]
非靶向代谢组学在遗传性代谢病诊断、监测及病理生理研究中的应用
Jonathan Martens,Udo F H Engelke,Ron A Wevers et al.
Jonathan Martens et al.
Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phen...
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights [0.03%]
GOSR2突变的基因型和表型谱系：临床和病理生理学见解
Sjoukje S Polet,Elisabeth Z Siegal,Sabine A Fuchs et al.
Sjoukje S Polet et al.
North Sea-Progressive Myoclonus Epilepsy (NS-PME) is a progressive neurological disorder, initially only associated with the homozygous GOSR2 founder mutation (c.430G>T; p.Gly144Trp). Clinical symptoms include untreatable early-onset ataxia...
Pretreatment With a Selected Strain of Baker's Yeast, GY007, Prevents the Accumulation of Galactose Metabolites Following Dietary Galactose Exposure in a GALT-Null Rat Model of Classic Galactosemia [0.03%]
以GY007酿酒酵母菌株为干预，可预防经典型半乳糖血症GALT敲除大鼠模型在摄入半乳糖后的代谢产物堆积
Shauna A Rasmussen,Olivia S Garrett,Judith L Fridovich-Keil
Shauna A Rasmussen
The current standard of care for patients with classic galactosemia (CG) involves lifelong dietary restriction of high galactose foods, including most dairy products. Here, we present the results of a pilot study testing whether pretreatmen...
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients [0.03%]
POLG疾病中的肝脏受累-202例患者多中心队列研究
Erle Kristensen,Karin Naess,Martin Engvall et al.
Erle Kristensen et al.
Liver involvement in POLG disease is common and associated with high morbidity and mortality. Detailed, large-scale, systematic studies of liver involvement are lacking. This study aims to describe the onset, clinical course and prognostic ...
Multicenter Study
Journal of inherited metabolic disease. 2025 Nov;48(6):e70112. DOI:10.1002/jimd.70112 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency [0.03%]
酪氨酸羟化酶（TH）缺乏症的诊断和治疗指南共识
Mariya Sigatullina Bondarenko,Oya Kuseyri Hübschmann,Jan Kulhánek et al.
Mariya Sigatullina Bondarenko et al.
Tyrosine hydroxylase (TH) catalyses the rate-limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrin...