Results 11 to 20 of about 9,849 (231)

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

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

Molecular Genetics and Metabolism Reports, 2018
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA, BCKDHB and DBT, which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid ...
Ernie Zuraida Ali, Lock-Hock Ngu
doaj   +2 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

Identification of gene mutations in six Chinese patients with maple syrup urine disease [PDF]

Frontiers in Genetics, 2023
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing ...
Lulu Li, Xinmei Mao, Nan Yang, Taoyun Ji, Shunan Wang, Yulan Ma, Haihe Yang, Yuting Sang, Jinqi Zhao, Lifei Gong, Yue Tang, Yuanyuan Kong   +11 more
doaj   +2 more sources

Maple syrup urine disease: mechanisms and management

The Application of Clinical Genetics, 2017
Patrick R Blackburn,1,2,* Jennifer M Gass,1,* Filippo Pinto e Vairo,3,4,* Kristen M Farnham,5 Herjot K Atwal,6 Sarah Macklin,5 Eric W Klee,3,4,7,8 Paldeep S Atwal1,5 1Center for Individualized Medicine, 2Department of Health Sciences Research, Mayo ...
Blackburn PR, Gass JM, Vairo FP, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS   +7 more
doaj   +3 more sources

Maple Syrup Urine Disease [PDF]

BMJ, 1964
M A, VOYCE, J N, MONTGOMERY, G A, LYNCH, J K, BOWMAN   +3 more
openaire   +4 more sources

Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption? [PDF]

Front Pediatr, 2022
Moreira-Silva H, Ferreira S, Almeida M, Gonçalves I, Cipriano MA, Vizcaíno JR, Santos-Silva E, Gomes-Martins E.   +7 more
europepmc   +3 more sources

Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis. [PDF]

Cureus
Miragaia P, Grangeia A, Rodrigues E, Sousa R, Ribeiro A.   +4 more
europepmc   +3 more sources