Results 51 to 60 of about 1,126 (118)

Methylmalonic acidemia with homocystinemia causing subacute combined degeneration of the spinal cord : a case report [PDF]

Linchuang erke zazhi
Methylmalonic acidemia (MMA) is a relatively common inherited organic acid disorder. However, MMA-associated subacute combined degeneration of the spinal cord (SCD) in pediatric patients remains exceedingly rare, with insidious onset and high risk of ...
CHEN Liuwang, LIU Pan, XI Rongjuan, ZHANG Xianxia, ZHANG Yi, WEI Xingjiao, SU Min, YANG Yonghong, FU Yangxi
doaj   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source

Blood DNA methylation signature for incident dementia: Evidence from longitudinal cohorts

Alzheimer's &Dementia, Volume 21, Issue 3, March 2025.
Abstract INTRODUCTION Distinguishing between molecular changes that precede dementia onset and those resulting from the disease is challenging with cross‐sectional studies. METHODS We studied blood DNA methylation (DNAm) differences and incident dementia in two large longitudinal cohorts: the Offspring cohort of the Framingham Heart Study (FHS) and the
Wei Zhang, Juan I. Young, Lissette Gomez, Michael A. Schmidt, David Lukacsovich, Brian W. Kunkle, X. Steven Chen, Eden R. Martin, Lily Wang   +8 more
wiley   +1 more source

Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria, intellectual disability and visual impairment, despite treatment adherence. While international guidelines recommend parenteral hydroxocobalamin (OH‐Cbl) as effective treatment, dose adjustments remain unclear.
Giorgia Olivieri, Benedetta Greco, Sara Cairoli, Giulio Catesini, Francesca Romana Lepri, Lorenzo Orazi, Maria Mallardi, Diego Martinelli, Daniela Ricci, Raffaele Simeoli, Carlo Dionisi‐Vici   +10 more
wiley   +1 more source

Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by deficient activity of the branched‐chain alpha‐ketoacid dehydrogenase (BCKDH) complex, required to metabolize the amino acids leucine, isoleucine, and valine.
Juan Ramón Tejedor, Alejandro Soriano‐Sexto, Leonardo Beccari, Natalia Castejón‐Fernández, Patricia Correcher, Lidia Sainz‐Ledo, Juan José Alba‐Linares, Rocío G. Urdinguio, Magdalena Ugarte, Agustín F. Fernández, Pilar Rodríguez‐Pombo, Mario F. Fraga, Belén Pérez   +12 more
wiley   +1 more source

Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review

Metabolism Open
Background: Holocarboxylase Synthetase Deficiency (HCSD) is an uncommon autosomal recessive genetic disorder that manifests with symptoms such as metabolic acidosis, lethargy, hypotonia, seizures, and persistent rashes, typically emerging during infancy.
Ye Ren, Hongxing Dang, Yueqiang Fu, Chengjun Liu, Jing Li, Jinhua Cai   +5 more
doaj   +1 more source

Generation of human pluripotent stem cell lines (WAe009-A) with THAP11F80L cobalamin disorder-associated mutation

Stem Cell Research
Recent studies reported that the mutation in the THAP11 gene (THAP11F80L) could be responsible for the inborn vitamin deficiency known as cobalamin disorder, by affecting the expression of the enzyme MMACHC, key in the cobalamin metabolism.
Yiren Qin, Carlos Godoy-Parejo, Marta Skowronska, Angela Verma, Marion Dejosez, Thomas P. Zwaka   +5 more
doaj   +1 more source

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations

BMC Pediatrics
Objective This study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation.
Yujun Yuan, Ying Ma, Qiong Wu, Liang Huo, Chun-Feng Liu, Xueyan Liu   +5 more
doaj   +1 more source

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

Orphanet Journal of Rare Diseases
Background Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism.
Ling Su, Huiying Sheng, Xiuzhen Li, Yanna Cai, Huifen Mei, Jing Cheng, Duan Li, Zhikun Lu, Yunting Lin, Xiaodan Chen, Minzhi Peng, Yonglan Huang, Wen Zhang, Li Liu   +13 more
doaj   +1 more source

Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis

Journal of Pediatric and Neonatal Individualized Medicine, 2015
Methylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.
Antonietta Zappu, Simona Incollu, Francesca Chiappe, Maria Barbara Lepori, Georgios Loudianos   +4 more
doaj   +1 more source