Results 61 to 70 of about 5,966 (238)

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

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT The current cornerstone of the management of many small‐molecule inborn errors of metabolism (IEMs) is a combination of dietary therapy and medication, with evidence for improved clinical outcomes. However, the burden imposed on patients and families is substantial.
A. Selvanathan, S. Nazir, K. van Wyk, E. Simpson, V. Holmes, R. Hutton, F. White, B. C. Schwahn   +7 more
wiley   +1 more source

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease

Molecular Genetics and Metabolism Reports, 2015
Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic ...
P.S. Atwal, C. Macmurdo, P.C. Grimm
doaj   +1 more source

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

Expanding the Clinical and Genetic Spectrum of Mitochondrial Short‐Chain Enoyl‐CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families

Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.
Mitochondrial short‐chain enoyl‐CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by mutations in the ECHS1 gene. Two Chinese families with inborn errors of metabolism were diagnosed using whole‐exome sequencing, revealing one novel variant (c.759_762del, p.Gly255Valfs*21) in the ECHS1 gene.
Jihua Wu, Xuehui Hu, Zhongli Zhao, Zhen Zhao, Bin Yang   +4 more
wiley   +1 more source

Maple Syrup Urine Disease [PDF]

Proceedings of the Royal Society of Medicine, 1968
G. W. Hatcher, C E Dent
openaire   +6 more sources

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

Anaesthetic management in maple syrup urine disease [PDF]

Anaesthesia, 1996
SummaryTwo children with maple syrup urine disease undergoing emergency and elective surgery are reported. The administration of ketamine to a 12‐month‐old boy without neurological problems and propofol infusion to a 5‐year‐old girl with a history of convulsions, was uneventful.
S. Kahraman, Omur Ercelen, Ö. Akkuş, Kemal Erdem, M. Ercan, T. CoSkun   +5 more
openaire   +3 more sources

Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Human milk (HM) is the optimal source of nutrition for infants. Yet the suitability of HM macronutrient composition, paired with the challenge of regulating HM intake, may deserve some consideration for infants with inherited metabolic disorders (IMDs) requiring restrictive and controlled dietary management. Except for classic galactosemia, HM
Fatma Ilgaz, Alexander Höller, Cyril Marsaux, Sandra Banta‐Wright, Turgay Coşkun, Kelly A. Dingess, Monika Jörg‐Streller, Camille Newby, Rani Singh, Bernd Stahl, Clare Szwec, Annemiek van Wegberg, Willie Woestenenk, Anita MacDonald, Daniela Karall   +14 more
wiley   +1 more source