Results 41 to 50 of about 883 (149)

Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates

Journal of Inherited Metabolic Disease, 2023
AbstractMaple syrup urine disease (MSUD) is an inborn error of branched‐chain amino acid metabolism affecting several thousand individuals worldwide. MSUD patients have elevated levels of plasma leucine and its metabolic product α‐ketoisocaproate (KIC), which can lead to severe neurotoxicity, coma, and death.
Kristen Skvorak, Joyce Liu, Nikki Kruse, Roasa Mehmood, Subhamoy Das, Stephan Jenne, Chinping Chng, U. Loi Lao, Da Duan, Jonathan Asfaha, Faye Du, Leann Teadt, Antionette Sero, Charlene Ching, James Riggins, Lianne Pope, Ping Yan, Harminder Mashiana, Moulay Hicham Alaoui Ismaili, Kerryn McCluskie, Gjalt Huisman, Adam P. Silverman   +21 more
openaire   +2 more sources

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +1 more source

Maple syrup urine disease (MSUD): a case with long-term follow-up after liver transplantation.

, 2013
Maple syrup urine disease (MSUD) is a rare hereditary metabolic condition where the body is unable to breakdown amino acids causing toxic buildup. Acute and long-term management of MSUD involves a restricted diet and regular monitoring of amino acid ...
McLaughlin, Paula M, Stringer, Anthony Y, Hinshaw, Jessica, Hinshaw Schneider, Jessica   +3 more
core   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review

BMC Oral Health
Background and objectives The literature about oral manifestations and dental management in maple syrup urine disease (MSUD) is sparse. The aim of this report is to present a new case of MSUD with special emphasis on oral findings and to review the ...
Yazan Hassona, Dua’a Alqaisi, Yara Flaifl, Asma Alkilani   +3 more
doaj   +1 more source

An RNA Recognition Motif-Containing Protein Functions in Meiotic Silencing by Unpaired DNA

G3: Genes, Genomes, Genetics, 2017
Meiotic silencing by unpaired DNA (MSUD) is a biological process that searches pairs of homologous chromosomes (homologs) for segments of DNA that are unpaired. Genes found within unpaired segments are silenced for the duration of meiosis. In this report,
Dilini A. Samarajeewa, Pennapa Manitchotpisit, Miranda Henderson, Hua Xiao, David G. Rehard, Kevin A. Edwards, Patrick K. T. Shiu, Thomas M. Hammond   +7 more
doaj   +1 more source

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

International Journal of Neonatal Screening, 2021
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficiency.
Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam   +11 more
doaj   +1 more source

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source

Гербарій ОНУ (MSUD) як джерело компетентісної підготовки бакалаврів-біологів

, 2019
ГЕРБАРНІ колекції є однією з важливих складових класичного сталого університету. Згідно стандарту освіти студенти мають освоїти і володіти чотирма видами компетентностей [5].
Vasylieva, Tetiana V., Немерцалов, Владимир Владимирович, Nemertsalov, Volodymyr V., Васильєва, Тетяна Володимирівна, Бондаренко, Олена Юріївна, Немерцалов, Володимир Володимирович, Васильева, Татьяна Владимировна, Bondarenko, Olena Yu., Бондаренко, Елена Юрьевна   +8 more
core   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source