Results 61 to 70 of about 3,232 (144)

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Diane Margoses, Apolline Imbard, Clément Pontoizeau, Anaïs Brassier, Jean‐Baptiste Arnoux, Juliette Bouchereau, Claire‐Marine Bérat, Murielle Assoun, Claire Belloche, Sabine Dewulf, Sandrine Dubois, Bénédicte Samba, Aude Servais, Myriam Dao, Edouard Le Guillou, Amélie de Colnet, Chris Ottolenghi, Pascale de Lonlay, Jean‐François Benoist, Manuel Schiff   +19 more
wiley   +1 more source

Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis

Molecular Genetics & Genomic Medicine, 2020
Background Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia.
Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu   +11 more
doaj   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2018
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment
Kejian Guo, Xuan Zhou, Xuan Zhou, Xigui Chen, Yili Wu, Yili Wu, Yili Wu, Chuanxin Liu, Chuanxin Liu, Qingsheng Kong, Qingsheng Kong   +10 more
doaj   +1 more source

Methylmalonic acidemia with homocystinuria, type cblC [PDF]

, 2020
INSERM
openalex   +1 more source

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition‐Related Hyperammonemia

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
M. M. Crenshaw, O. M. D'Annibale, V. Martucci, S. Gracie, A. Kochhar, J. Stansauk, A. Larson, P. Baker II, C. Peck, T. Wood, A. El‐Gharbawy, S. McCandless, M. K. LoPiccolo   +12 more
wiley   +1 more source

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

International Journal of Neonatal Screening
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA.
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot   +11 more
doaj   +1 more source

Beyond the Surface: Novel Therapy Approach for Pancreatitis in the Setting of CFTR Dysfunction

Case Reports in Gastrointestinal Medicine, Volume 2026, Issue 1, 2026.
Objectives Despite cystic fibrosis transmembrane conductance regulator (CFTR) proteins being present throughout the entire body and organ systems, typical presentation of cystic fibrosis (CF) involves lung disease. We report a series of individuals that were referred to our CF clinic for evaluation following a diagnosis of chronic pancreatitis or acute
Brittany A. Wright, Ellie Hodapp, Douglas B. Hornick, Tahuanty A. Peña, Poulami Jha   +4 more
wiley   +1 more source

Clinical outcomes and survival of individuals with methylmalonic acidemia, propionic acidemia, classic homocystinuria, and remethylation disorders identified through newborn screening [PDF]

, 2023
Anna T. Reischl‐Hajiabadi, Elena Schnabel‐Besson, Florian Gleich, Katharina Mengler, Martin Lindner, Peter Burgard, Roland Posset, Svenja Lommer‐Steinhoff, Sarah C. Grünert, Eva Thimm, Peter Freisinger, Julia B. Hennermann, Johannes Krämer, Gwendolyn Gramer, Dominic Lenz, Stine Christ, Friederike Hörster, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, Ulrike Mütze   +20 more
openalex   +1 more source

Delivery strategies of messenger RNA therapeutics for brain disorders

Bulletin of the Korean Chemical Society, Volume 46, Issue 12, Page 1186-1204, December 2025.
Thus, mRNA therapeutics offer a powerful new avenue for the treatment of brain diseases. This review examines strategies to bypass biological barriers, particularly the blood–brain barrier, and explores emerging delivery systems, such as direct intracerebral injection, intracerebroventricular injection, systemic delivery (including intravenous ...
Kounghwa Youn, Sunmin Oh, Hyunchae Gil, Yongseok Choi, Gyochang Keum, Eun‐Kyoung Bang   +5 more
wiley   +1 more source