Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency [0.03%]
creatine补充通过下调AGAT降低GAMT缺陷小鼠模型中的甘氨酰胺醋酸水平
Ilona Tkachyova,Dahai Wang,Alex Lee et al.
Ilona Tkachyova et al.
The cornerstone of treatment in creatine synthesis defects is the supplementation of creatine (CT). The treatment leads to partial replenishment of creatine; it also leads to the reduction of guanidinoacetate (GAA). Considering the neurotox...
Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients [0.03%]
肝糖原累积病型 IX：来自英国 89 例患者的长期随访结果
Rebecca K Halligan,Michael T Sanders,Arthavan Selvanathan et al.
Rebecca K Halligan et al.
Hepatic glycogen storage disease type IX (GSD IX) is due to a deficiency of phosphorylase kinase and is one of the most common types of GSD. We conducted a retrospective, observational cohort study on individuals with GSD IX from across the...
Observational Study
Journal of inherited metabolic disease. 2026 Jul;49(4):e70228. DOI:10.1002/jimd.70228 2026
Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers [0.03%]
甲基丙二酸血症和丙酸血症肝癌：一种罕见的并发症？24例临床病理研究
Léa Zloty,Mouna Aoun,Carmen Capito et al.
Léa Zloty et al.
In methylmalonic (MMA) and propionic acidemias (PA), liver or liver-kidney transplantation (Tx) is indicated for metabolic decompensations, kidney failure (MMA), and to improve quality of life. Liver cancer was reported in five patients wit...
Nathan Breuillard,Nadia Zürcher,Erica Faccin et al.
Nathan Breuillard et al.
Inborn errors of metabolism affecting the urea cycle are rare severe conditions caused by impaired nitrogen detoxification, leading to hyperammonemia and neurological morbidity across a broad clinical spectrum. Current biochemical diagnosti...
Letter to the Editor in Response to Gondrand Et al. "Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria" [0.03%]
致编辑的信：评论Gondrand 等有关苯丙酮尿症患者新型便携式苯丙氨酸检测仪应用的文章
Rachel S Carling,Emily Whyte,Stuart J Moat
Rachel S Carling
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment [0.03%]
NAXD缺陷：异质表型及对烟酸治疗的积极反应
Najmesadat Seyedkatouli,Liana N Semcesen,Lucia Gallucci et al.
Najmesadat Seyedkatouli et al.
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-2 (PEBEL2) is a rare autosomal recessive neurometabolic disorder caused by pathogenic variants in NAXD, in which febrile illness or infection triggers rapid ...
Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency [0.03%]
ATP5MEbiallelic功能丧失变异与严重早发性氧化磷酸化缺陷相关
Pranavi Hegde,Aakanksha Anand,Rita Rani et al.
Pranavi Hegde et al.
ATP synthase (complex V) catalyzes ATP synthesis and is composed of the F1 catalytic sector and the F0 proton-conducting sector. The e subunit of the F0 sector, encoded by ATP5ME, is essential for complex V dimerization and cristae organiza...
Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I [0.03%]
超出上呼吸道病变：黏多糖贮积症I型小鼠模型中肺部固有疾病的证据
Martin Donnelley,Ronan Smith,Patricia Cmielewski et al.
Martin Donnelley et al.
Almost all patients with mucopolysaccharidosis (MPS) develop respiratory dysfunction of varying severity during disease progression. While respiratory disease in MPS has traditionally been attributed to upper airway obstruction caused by gl...
Abdul L Shakerdi,Jack Drda,Justin A Dutta et al.
Abdul L Shakerdi et al.
Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological cri...