Results 91 to 100 of about 26,062 (264)

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

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

Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
ABSTRACT Liver transplantation (LTx) is increasingly used in Urea Cycle Defects (UCDs) to prevent recurrent hyperammonemia and related neurological irreversible injury. Among UCDs, argininosuccinate lyase deficiency (ASLD) has a more complex phenotype than other UCDs, with long‐term neurocognitive deficits.
Barbara Siri, Benedetta Greco, Diego Martinelli, Sara Cairoli, Alessia Guarnera, Daniela Longo, Antonio Napolitano, Chiara Parrillo, Lucilla Ravà, Raffaele Simeoli, Gionata Spagnoletti, Roberta Taurisano, Silvio Veraldi, Andrea Pietrobattista, Marco Spada, Carlo Dionisi‐Vici   +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

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

A Novel Statistical Diagnosis of Clinical Data [PDF]

arXiv, 2002
In this paper, we present a diagnosis method of diseases from clinical data. The data are routine test such as urine test, hematology, chemistries etc. Though those tests have been done for people who check in medical institutes, how each item of the data interacts each other and which combination of them cause a disease are neither understood nor ...
arxiv  

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  

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt   +14 more
wiley   +1 more source

Report of Pedigree Pattern of a Family with Two Members Affected with Maple Syrup Urine Disease

پزشکی بالینی ابن سینا, 1999
Present paper reports two cases of affected newborns with maple syrup    urine  disease  (MSUD)   in  an  Iranian  rural  family,   and also explains the    genetic   counseling    procedure.
Hamid Pour Jafari
doaj  

Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact

Journal of Biochemical and Clinical Genetics, 2019
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair   +2 more
doaj   +1 more source