Results 51 to 60 of about 3,985 (198)

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

N‐lactoyl amino acids are potential biomarkers for insulin resistance and diabetic complications

Diabetes, Obesity and Metabolism, Volume 27, Issue 10, Page 5793-5804, October 2025.
Abstract Aims N‐lactoyl amino acids (Lac‐AA) are emerging as crucial players in metabolic research, with potential implications for disease mechanisms and therapeutic interventions. This study exploress the role of Lac‐AA in insulin resistance, type 2 diabetes (T2D), and its complications.
Khaled Naja, Asma A. Elashi, Najeha Anwardeen, Aleem Razzaq, Laila Hedaya, Shamma Almuraikhy, Ilhame Diboun, Karsten Suhre, Omar AlBagha, Mohamed A. Elrayess   +9 more
wiley   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Maple syrup urine disease: mechanisms and management

The Application of Clinical Genetics, 2017
Patrick R Blackburn,1,2,* Jennifer M Gass,1,* Filippo Pinto e Vairo,3,4,* Kristen M Farnham,5 Herjot K Atwal,6 Sarah Macklin,5 Eric W Klee,3,4,7,8 Paldeep S Atwal1,5 1Center for Individualized Medicine, 2Department of Health Sciences Research, Mayo ...
Blackburn PR, Gass JM, Vairo FP, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS   +7 more
doaj  

Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Molybdenum cofactor deficiency (MoCD) is a rare differential diagnosis of neonatal hypoxic ischemic encephalopathy (HIE) with considerable variation in presentation and treatment outcomes. The temporospatial evolution of brain MRI appearances has not been well described.
B. C. Schwahn, R. Sinha, J. A. M. Wright, J. Pavaine   +3 more
wiley   +1 more source

Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease

Case Reports in Dermatological Medicine, 2017
Introduction. Maple syrup urine disease (MSUD) is an inborn error of branched chain amino acids (BCAAs) metabolism. We report an infant with MSUD who developed 2 episodes of cutaneous lesions as a result of isoleucine deficiency and zinc deficiency ...
Jaraspong Uaariyapanichkul, Puthita Saengpanit, Ponghatai Damrongphol, Kanya Suphapeetiporn, Sirinuch Chomtho   +4 more
doaj   +1 more source

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

Stem Cell Research, 2019
Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral
Yue Li, Haiyan Zhang, Beibei Yan, Yanyan Ma, Xiaomeng Yang, Jingyun Guan, Yuqiang Lv, Min Gao, Jian Ma, Zhongtao Gai, Yi Liu   +10 more
doaj   +1 more source

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

Movement Disorders, Volume 40, Issue 9, Page 1851-1862, September 2025.
Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath, Sanna Huhtaniska, Juulia Ellonen, Tytti Pokka, Salla M. Kangas, Jukka Moilanen, Heli Helander, Hanna Kallankari, Jonna Komulainen‐Ebrahim, Päivi Vieira, Elisa Rahikkala, Renzo Guerrini, Minna Honkila, Terhi S. Ruuska, Reetta Hinttala, Maria Suo‐Palosaari, Jussi‐Pekka Tolonen, Johanna Uusimaa   +17 more
wiley   +1 more source

Case report: maple syrup urine disease with a novel DBT gene mutation

BMC Pediatrics, 2019
Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex.
Wei Feng, Jinfu Jia, Heyang Guan, Qing Tian   +3 more
doaj   +1 more source

Age‐specific reference intervals for plasma amino acids and their associations with nutrient intake in the Chinese pediatric population

iMeta, Volume 4, Issue 3, June 2025.
A total of 2901 healthy Chinese children aged 0–12 years were enrolled in the reference group; 102 confirmed Phenylketonuria cases were included as validation individuals. Establishing the age‐specific reference intervals of 42 plasma amino acids in Chinese pediatric populations. Profiling dynamic interactions between multiple nutrient intake and amino
Yang Wen, Qing Liu, Hongbo Zeng, Lina Lyu, Xuezhen He, Xin Zhang, Wentao Lyu, Weijun Chen, Yingping Xiao   +8 more
wiley   +1 more source