Results 101 to 110 of about 883 (149)

Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline

European Journal of Pediatrics, 2008
Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by the deficiency of the branched-chain 2-oxo acid dehydrogenase (BCOA-DH) complex. The worldwide incidence is approximately 1 in 185,000. MSUD is integrated in many "expanded" newborn screening (NBS) programs that use electrospray ionization tandem mass spectrometry ...
Ralph Fingerhut
exaly   +4 more sources

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Young Adults with MSUD and Their Transition to Adulthood: Psychosocial Issues

Journal of Genetic Counseling, 2012
AbstractMaple Syrup Urine Disease (MSUD) is an autosomal recessive condition with an incidence of 1 in 185,000 births worldwide. Regardless of the type of MSUD, treatment includes immediate and lifelong dietary restriction of isoleucine, leucine and valine.
Wendy Packman
exaly   +3 more sources

Neurological Damage in MSUD: The Role of Oxidative Stress

Cellular and Molecular Neurobiology, 2013
Maple syrup urine disease (MSUD) is a metabolic disease caused by a deficiency in the branched-chain α-keto acid dehydrogenase complex, leading to the accumulation of branched-chain keto acids and their corresponding branched-chain amino acids (BCAA) in patients. Treatment involves protein-restricted diet and the supplementation with a specific formula
Moacir Wajner, Alethea G Barschak, Carmen Vargas   +2 more
exaly   +3 more sources

Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients [PDF]

International Journal of Pharmaceutics, 2019
Maple syrup urine disease (MSUD) is a rare metabolic disorder with a worldwide prevalence of 1 in every 185,000 live births. However, certain populations display a significant overexpression of the disorder where incidence is reported to be 1 in every 52,
Alvaro Goyanes, Abdul W Basit, Simon Gaisford   +2 more
exaly   +2 more sources

Evidence of Common Ancestry for the Maple Syrup Urine Disease (MSUD) Y438N Allele in Non-Mennonite MSUD Patients

Molecular Genetics and Metabolism, 2002
Maple syrup urine disease (MSUD) is a rare (1/185,000) autosomal recessive inborn error of branched-chain amino acid metabolism characterized by increased plasma leucine, isoleucine, and valine levels. Though, genetically heterogeneous in the worldwide population, MSUD in Old Order Mennonites (1/150-176) is the result of a tyrosine to asparagine ...
Charlotte L Phillips
exaly   +3 more sources

Neurocognitive profiles in MSUD school‐age patients

Journal of Inherited Metabolic Disease, 2017
AbstractMaple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha‐ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree.
Juliette, Bouchereau, Julie, Leduc-Leballeur, Samia, Pichard, Apolline, Imbard, Jean-François, Benoist, Marie-Thérèse, Abi Warde, Jean-Baptiste, Arnoux, Valérie, Barbier, Anaïs, Brassier, Pierre, Broué, Aline, Cano, Brigitte, Chabrol, Gilles, Damon, Claire, Gay, Isabelle, Guillain, Florence, Habarou, Delphine, Lamireau, Chris, Ottolenghi, Laetitia, Paermentier, Frédérique, Sabourdy, Guy, Touati, Hélène, Ogier de Baulny, Pascale, de Lonlay, Manuel, Schiff   +23 more
openaire   +2 more sources

DCL-1 colocalizes with other components of the MSUD machinery and is required for silencing

Fungal Genetics and Biology, 2008
In Neurospora, a gene present in an abnormal number of copies is usually a red flag for mischief. One way to deal with these potential intruders is by destroying their transcripts. Widely known as RNA interference (RNAi), this mechanism depends on the "dicing" of a double-stranded RNA intermediate into small-interfering RNA, which in turn guide the ...
William G Alexander, Thomas M. Hammond, Patrick K T Shiu   +2 more
exaly   +3 more sources

A Rapid and Sensitive UPLC-MS/MS-Method for the Separation and Quantification of Branched-Chain Amino Acids from Dried Blood Samples of Patients with Maple Syrup Urine Disease (MSUD)

International Journal of Neonatal Screening, 2016
Newborn screening for MSUD is a special challenge since patients with MSUD can metabolically decompensate rapidly without adequate treatment within the first two weeks of life.
Ralph Fingerhut
exaly   +2 more sources

Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy

Molecular Genetics and Metabolism, 2017
Maple Syrup Urine Disease (MSUD) is a rare disorder of branched-chain amino acid catabolism associated with encephalopathy from accumulation of leucine. Leucine is closely monitored during normal growth and particularly during acute illness. As most hospitals do not have access to rapid plasma amino acid quantification, the initial management is often ...
Anna I, Scott, Kristina, Cusmano-Ozog, Gregory M, Enns, Tina M, Cowan   +3 more
openaire   +2 more sources

Variant maple syrup urine disease (MSUD)—The entire spectrum

Journal of Inherited Metabolic Disease, 2006
SummaryBackground: In the rare inborn autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched‐chain amino acids (BCAAs) and their metabolic products results in acute and chronic brain dysfunction. About 20% of the patients suffer from non‐classic variant forms of MSUD of different clinical severity. Aim: Up to now
E, Simon, N, Flaschker, P, Schadewaldt, U, Langenbeck, U, Wendel   +4 more
openaire   +2 more sources