High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis [0.03%]
高蛋白饮食改善心脏特异性AGL敲除小鼠心肌病与肝脏糖异生增强有关
Caiqi Du,Hao Fu,Tingting Yu et al.
Caiqi Du et al.
Glycogen storage disease type IIIa (GSDIIIa) causes progressive cardiomyopathy, and current high-fat dietary strategies lack consensus regarding long-term cardiovascular safety. We evaluated the efficacy and safety of high-protein versus hi...
Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives [0.03%]
苯酮尿症帕亨努2型小鼠行为表型的综述及未来展望
Junfei Cao,Lennart Kruizinga,Iris B Hovens et al.
Junfei Cao et al.
Phenylketonuria (PKU) is a rare metabolic disorder resulting from a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), resulting in very high phenylalanine (Phe) levels in blood and brain. A PKU mutant mouse model was...
Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency [0.03%]
BAAT缺乏小鼠可重现日本BAAT缺乏患者中观察到的7α-羟基-3-氧代-4-胆甾烯酸升高的现象
Soma Koga,Hajime Takei,Ryutaro Tamura et al.
Soma Koga et al.
Bile acid Coenzyme A: amino acid N-acyltransferase (BAAT) catalyzes the conjugation of bile acids with taurine or glycine, a process essential for bile acid solubility and intestinal lipid absorption. Mutations in BAAT cause an inborn error...
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 ...