MSUD

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Related to maple syrup urine disease: maple syrup diet
AcronymDefinition
MSUDMaple Syrup Urine Disease (medicine)
MSUDMaster of Science in Urban Design (degree; various locations)
MSUDMeiotic Silencing by Unpaired DNA (genetics)
MSUDMetropolitan State University Denver (Denver, CO)
References in periodicals archive ?
Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience.
Maple syrup urine disease (MSUD) is an inherited disease characterized by an impaired metabolism of branched-chain amino acids (BCAA), which is caused by deficiency of the branched-chain a-ketoacid dehydrogenase (BCKD) complex (1).
Thus, the diagnosis of MSUD (maple syrup urine disease) was made based on clinical and biochemical data.
Erez et al., "Phenylbutyrate therapy for maple syrup urine disease," Human Molecular Genetics, vol.
Maple syrup urine disease: branched-chain ketoaciduria.
The new test will also check for maple syrup urine disease, homocystinuria, glutaric acidaemia type 1 and isovaleric acidaemia.
From early next year, 'heel prick' blood samples taken from newborn babies will be tested for four additional metabolic disorders - glutaric aciduria type 1, homocystinuria, isovaleric acidaemia and maple syrup urine disease.
Among the most common rare diseases in the Philippines are the maple syrup urine disease with 126 patients listed in PSOD, and the mucopolysaccharidoses II with 49 patients.
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that results in decreased activity of the branched-chain ketoacid dehydrogenase (BCKDH) complex, leading to accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine.
Among these are Gaucher Disease, Maple Syrup Urine Disease, Pompe Disease, Galactosemia, Phenylketonuria, Methylmalonic Acidemia, Urea Cycle Defects, Hurler Syndrome, Hunter Syndrome, Prader-Willi Syndrome, Edward Syndrome, and Patau Syndrome.
Little Habul Khatoom, aged five months, was hours from death before test results found she had maple syrup urine disease (MSUD).