Results 1 to 10 of about 883 (149)

Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population

Molecular Genetics and Metabolism Reports, 2014
Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence ...
Omar Tabbouche
exaly   +4 more sources

Lipid changes in the metabolome of a single case study with maple syrup urine disease (MSUD) after five days of improved diet adherence of controlled branched-chain amino acids (BCAA)

Molecular Genetics and Metabolism Reports, 2020
Background: Distinguishing systemic metabolic disruptions in maple syrup urine disease (MSUD) beyond amino acid pathways is under-investigated, yet important to understanding disease pathology and treatment options.
Douglas Wixted, Kristin Newby, Teresa D Douglas   +2 more
exaly   +4 more sources

Defining the psychiatric and financial burden of mental and substance use disorders in cancer patients

Cancer Medicine, 2023
Purpose To identify the proportion of Emergency Department (ED) visits in cancer patients associated with a mental and substance use disorder (MSUD) and the subsequent healthcare costs.
Sujith Baliga, Brett Klamer, Joshua D. Palmer, Sharla Wells‐Di Gregirio, Sachin S. Kale, Marcelo Bonomi, Matthew O. Old, James W. Rocco, Dukagjin M. Blakaj   +8 more
doaj   +1 more source

Fasting and non‐fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease

JIMD Reports, 2023
The branched‐chain amino acids (BCAA) leucine, valine, and isoleucine provide precursors for monomethyl branched‐chain fatty acids (BCFA). Established reference ranges for BCFAs are lacking.
Trine Tangeraas, Erle Kristensen, Lars Mørkrid, Elisabeth Elind, Yngve Thomas Bliksrud, Lars Eide   +5 more
doaj   +1 more source

Molecular basis of various forms of maple syrup urine disease in Chilean patients

Molecular Genetics & Genomic Medicine, 2021
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex.
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva Jr, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Döederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Ester S. Borges, José S. Camelo Jr   +12 more
doaj   +1 more source

Loss of the Drosophila branched-chain α-ketoacid dehydrogenase complex results in neuronal dysfunction

Disease Models & Mechanisms, 2020
Maple syrup urine disease (MSUD) is an inherited error in the metabolism of branched-chain amino acids (BCAAs) caused by a severe deficiency of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex, which ultimately leads to neurological disorders.
Hui-Ying Tsai, Shih-Cheng Wu, Jian-Chiuan Li, Yu-Min Chen, Chih-Chiang Chan, Chun-Hong Chen   +5 more
doaj   +1 more source

The Neurospora crassa Standard Oak Ridge Background Exhibits Atypically Efficient Meiotic Silencing by Unpaired DNA

G3: Genes, Genomes, Genetics, 2019
Meiotic silencing by unpaired DNA (MSUD), an RNAi-mediated gene silencing process, is efficient in crosses made in the Neurospora crassa standard Oak Ridge (OR) genetic background.
Dev Ashish Giri, Ajith V. Pankajam, Koodali T. Nishant, Durgadas P. Kasbekar   +3 more
doaj   +1 more source

Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population

Scientific Reports, 2021
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 females and 4 males)
Xiaohua Fang, Xiaofan Zhu, Yin Feng, Ying Bai, Xuechao Zhao, Xiangdong Kong, Ning Liu   +6 more
doaj   +1 more source

Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease

Molecular Genetics & Genomic Medicine, 2020
Background Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease‐causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched‐chain α ...
Thi T. N. Nguyen, Chi D. Vu, Ngoc L. Nguyen, Thi T. H. Nguyen, Ngoc K. Nguyen, Huy H. Nguyen   +5 more
doaj   +1 more source

Maple syrup urine disease decompensation misdiagnosed as a psychotic event

Molecular Genetics and Metabolism Reports, 2022
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine.
Tomoyasu Higashimoto, Matthew T. Whitehead, Erin MacLeod, Danielle Starin, Debra S. Regier   +4 more
doaj   +1 more source