Results 31 to 40 of about 5,075,107 (157)

Maple Syrup Urine Disease: About a Case [PDF]

, 2023
Qualitative study of a clinical case, maple syrup urine disease (MAOJA), inborn error of metabolism of branched-chain amino acids with accumulation of these, resulting in severe neonatal encephalopathy, which, not being diagnosed, it leads to the ...
Isabel, Fong Betancourt María, del Carmen, Yabor LabradaMaría, Elsy, Labrada González,   +2 more
core   +1 more source

Wernicke-like encephalopathy during classic maple syrup urine disease decompensation.

, 2012
We describe a new neuroradiologic picture observed during metabolic decompensation in two maple syrup urine disease (MSUD) patients that resembles Wernicke encephalopathy (WE).
V. Citton, R. Manara, Burlina AP, MANARA, RENZO, A. P. Burlina, Del Rizzo M, Rodriguez Pombo P, Ugarte M, P. Rodriguez‐Pombo, M. Ugarte, Rodriguez-Pombo P, Bordugo A, A. B. Burlina, M. Del Rizzo, Manara R, BURLINA A, Burlina AB, A. Bordugo, Citton V   +18 more
core   +2 more sources

Nutrient management in the intrapartum period in maternal maple syrup urine disease

Molecular Genetics and Metabolism Reports, 2021
Women with congenital amino acid disorders, including maple syrup urine disease (MSUD), are at risk of metabolic crisis at delivery. There are still only a few case reports of maternal MSUD globally, and we are the first to report the successful ...
Chika Takano, Mika Ishige, Erika Ogawa, Nobuhiko Nagano, Tamaki Morohashi, Aya Okahashi, Kaori Kawakami, Atsushi Komatsu, Kei Kawana, Tatsuhiko Urakami, Ichiro Morioka   +10 more
doaj   +1 more source

DIFFUSION-WEIGHTED MRI OF MAPLE SYRUP URINE DISEASE ENCEPHALOPATHY

, 2002
DIFFUSION-WEIGHTED MRI OF MAPLE SYRUP URINE DISEASE ...
FERRARI F, BERARDI A, MAVILLA L, BURLINA AB, CAVALLERI F   +4 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

Molecular Genetics and Metabolism Reports, 2018
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid ...
Ernie Zuraida Ali, Lock-Hock Ngu
doaj   +1 more source

A Quantitative Systems Pharmacology Model of Human Leucine Metabolism

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 10, October 2026.
ABSTRACT Branched‐chain amino acids (BCAAs) are essential dietary components that humans cannot synthesize. Altered BCAA levels have been associated with biomarkers or potential risk factors in several metabolic disorders, including insulin resistance, type 2 diabetes, obesity, and cardiovascular disease.
J. Cody Herron, Anna Sher, Yingbo Ma, Elisabeth Roesch, Sebastian Miculța‐Câmpeanu, Christopher Rackauckas, Kevin J. Filipski, Rachel Roth Flach, Theodore R. Rieger, Cynthia J. Musante, Richard Allen   +10 more
wiley   +1 more source

MRI brain in maple syrup urine disease

Journal of Medical Evidence
A neonate presented with vomiting, poor feeding, and progressive lethargy during the early neonatal period, with metabolic acidosis but otherwise unremarkable routine biochemistry. Magnetic resonance imaging (MRI) of the brain showed symmetrical areas of
Tripti Prajapati, Rahul Dev
doaj   +1 more source

Medium Chain Acyl‐CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal Ketoacidosis

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) classically presents with hypoketotic hypoglycaemia; however, this presentation is now rare following the introduction of newborn screening. While children with MCADD may produce some ketones, severe ketoacidosis has not been previously described.
Nazreen Kamarus Jaman, Isaac Bernhardt, Sophie Ward, Freya Hassall, James Nurse, Hugh Lemonde, R. Neil Dalton, Michael Champion   +7 more
wiley   +1 more source

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +1 more source