Results 1 to 10 of about 3,985 (198)

Two novel mutations in the BCKDHB gene that cause maple syrup urine disease [PDF]

Pediatrics and Neonatology, 2018
Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder of autosomal recessive inheritance caused by decreased activity of branched-chain α-ketoacid dehydrogenase complex (BCKD). Mutations in the three genes (BCKDHA, BCKDHB and DBT) are
Bingjuan Han, Bingchao Han, Bin Guo, Yingxia Liu, Zhiyang Cao   +4 more
doaj   +2 more sources

Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al [PDF]

Molecular Genetics and Metabolism Reports
Chika Takano, Erika Ogawa, Natsuko Arai-Ichinoi, Mika Ishige   +3 more
doaj   +3 more sources

Maple syrup urine disease decompensation misdiagnosed as a psychotic event [PDF]

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   +2 more sources

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination [PDF]

JCRPE, 2023
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage.
Azza AL Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al-Hashmi, Fathiya Al Murshedi   +7 more
doaj   +2 more sources

Pediatric liver transplant for maple syrup urine disease a single center experience [PDF]

Frontiers in Pediatrics
IntroductionMaple syrup urine disease (MSUD) is an autosomal recessive inborn error of branched-chain amino acid metabolism caused by an inherited deficiency of branched-chain alpha-ketoacid dehydrogenase (BCKDH) activity that degrades isoleucine ...
Ibrahim Hassan, Samah Mahjoub, Bushra Jalodi, Iftikhar Khan, Ahmed Zidan, Ahmed Zidan, Mansour Tawfeeq, Mohammed Al Qahtani, Mohammed Al Qahtani, Razan Bader, Eyad Gadour, Eyad Gadour   +11 more
doaj   +2 more sources

Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report [PDF]

Molecular Genetics and Metabolism Reports
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKAD) complex.
Jariya Upadia, Grace Noh, Kea Crivelly, Jennifer Smith, Hans C. Andersson   +4 more
doaj   +2 more sources

Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease

Molecular Genetics and Metabolism Reports, 2015
Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic ...
P.S. Atwal, C. Macmurdo, P.C. Grimm
doaj   +2 more sources

Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease [PDF]

Dermatology Reports, 2023
Acrodermatitis dysmetabolica (AD) describes eruptions characterized by the clinical triad of acral dermatitis, diarrhea, and alopecia. AD can be caused by various metabolic disorders one of which is maple syrup urine disease (MSUD). We present a 2-month-
Fares A. Alkhayal, Sukina Al Haddad , Reem Medhat Bakraa , Abdulmalik Alqahtani   +3 more
doaj   +2 more sources

"Maple Syrup Urine Disease" [PDF]

BMJ, 1959
J, DANCIS, M, LEVITZ, S, MILLER, R G, WESTALL   +3 more
  +7 more sources

Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study [PDF]

JIMD Reports
This study aims to determine the factors associated with mortality and neurodevelopmental morbidity in patients with Maple Syrup Urine Disease (MSUD) seen at a tertiary hospital in the Philippines during a 10‐year period.
Christine Mae S. Avila, Mary Ann R. Abacan   +1 more
doaj   +2 more sources