Results 91 to 100 of about 11,541 (279)

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source

Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics

Cureus, 2020
Maple syrup urine disease, an inherited disorder of metabolism, is characterised by deficient activity of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD) enzyme, resulting in an accumulation of branched-chain amino acids.
S. Rauf, Talal Almas, Irfan Ullah, N. Usman, Muhammad Irfan   +4 more
semanticscholar   +1 more source

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Newborn screening (NBS) is one of the most effective measures of secondary prevention. While the benefit of NBS on the clinical long‐term outcomes of children with inherited metabolic diseases (IMD) has been demonstrated, the potential burden of families living with an early diagnosed and treated child with an IMD has not been thoroughly ...
Elena Schnabel‐Besson, Sven F. Garbade, Florian Gleich, Sarah C. Grünert, Johannes Krämer, Eva Thimm, Julia B. Hennermann, Peter Freisinger, Peter Burgard, Gwendolyn Gramer, Marina A. Morath, A. Tunç Tuncel, Svenja Keßler, Georg F. Hoffmann, Stefan Kölker, Ulrike Mütze   +15 more
wiley   +1 more source

Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease

Molecular Genetics and Metabolism Reports, 2015
Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body.
H.L. Chin, M.M. Aw, S.H. Quak, J. Huang, C.E. Hart, K. Prabhakaran, D.L. Goh   +6 more
doaj   +1 more source

Production and characterization of murine models of classic and intermediate maple syrup urine disease [PDF]

, 2006
BACKGROUND: Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency.
A Bodner-Leidecker, A Harper, A Kistner, A Mattevi, A Nagy, A Suryawan, B Zhang, BS Khatra, Carolyn Ferguson, D Chuang, DH Morton, DJ Danner, DT Chuang, F Peinemann, G Ambrosino, GE Homanics, GE Homanics, GM Mueller, Gregg E Homanics, GW Snedecor, H Koyata, H Paul, H Paul, Harbhajan S Paul, J Chuang, J Li, J-Y Wu, JC Netter, JD Baird, JE Knapp, JH Fair, KA Strauss, Kristen Skvorak, L Marshall, L Wang, M Gossen, M Kozak, M Muraca, M Yoshino, PA Harper, R Cox, R Paxton, RD Palmiter, RL Brinster, S Mochizuki, S Yeaman, Simon Watkins, SL Mansour, SM Hutson, U Wendel, V Tybulewicz   +50 more
core   +3 more sources

Long‐term neurodevelopmental outcomes following liver transplantation for metabolic disease‐a single centre experience

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract This study describes the neurodevelopmental outcome of children with urea cycle disorders (UCD) and organic acidemias (OA) preliver transplant (LT), 1‐year, and 3‐years post‐LT. We performed a retrospective chart review of children with OA or UCD transplanted between January 2014 and December 2021.
Catherine Patterson, Anna Gold, Stephanie So, Leila Kahnami, Michaela Dworsky‐Fried, Eva Mamak, Alaine Rogers, Andreas Schulze, Birgit Ertl‐Wagner, Vicky Ng, Yaron Avitzur   +10 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

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Alterations in brain structure are frequently observed in adults with early‐treated phenylketonuria (PKU) compared to healthy controls, with cerebral white matter (WM) being particularly affected. The extent to which temporary elevation of phenylalanine (Phe) levels impacts WM remains unclear.
Raphaela Muri, Murray Bruce Reed, Stephanie Maissen‐Abgottspon, Roland Kreis, Michel Hochuli, Rupert Lanzenberger, Roman Trepp, Regula Everts   +7 more
wiley   +1 more source

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