Results 61 to 70 of about 2,974 (143)

Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease

Molecular Genetics and Metabolism Reports, 2015
Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body.
H.L. Chin, M.M. Aw, S.H. Quak, J. Huang, C.E. Hart, K. Prabhakaran, D.L. Goh   +6 more
doaj   +1 more source

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Molecular Genetics and Metabolism Reports, 2018
Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened.
Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall L. Summar   +3 more
doaj   +1 more source

Treatment of maple syrup urine disease with high flow hemodialysis in a neonate

The Turkish Journal of Pediatrics, 2019
Continious renal replacement therapy (CRRT) is a well recognizied treatment of choice in acute renal failure, however CRRT became a preferred treatment of metabolic emergencies with high leucine and ammonia levels like Maple syrup urine disease (MSUD ...
Fatih Aygün, Ertuğrul Kıykım, Çiğdem Aktuğlu-Zeybek, Tanyel Zubarioğlu, Halit Cam   +4 more
doaj   +1 more source

Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact

Journal of Biochemical and Clinical Genetics, 2019
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair   +2 more
doaj   +1 more source

Molecular genetics of maple syrup urine disease in the Turkish population

The Turkish Journal of Pediatrics, 2009
In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1alpha, E1beta and E2 subunits of the multienzyme branched-chain alpha-keto acid dehydrogenase (BCKDH) complex.
Kerstin Gorzelany, Ali Dursun, Turgay Coşkun, Serap H Kalkanoğlu-Sivri, Gülden Fatma Gökçay, Mübeccel Demirkol, Oliver Feyen, Udo Wendel   +7 more
doaj  

An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene

Stem Cell Research, 2019
The human induced pluripotent stem cell (iPSC) line SDQLCHi013-A was generated from peripheral blood mononuclear cells of a 7-day-old infant, who was diagnosed with maple syrup urine disease and carried compound heterozygote mutations (c.1280_1282 delTGG
Haiyan Zhang, Yanyan Ma, Xiaomei Li, Xiaomeng Yang, Yue Li, Jingyun Guan, Rui Dong, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

Cutaneous Manifestation Maple Syrup Urine Disease: Case Report

Revista Finlay
Maple syrup urine disease or leucinosis is caused by an inborn error in the metabolism of three essential branched chain amino acids. During its complex dietary-nutritional management, skin lesions may appear secondary to amino acid deficiency.
Gabriel Alejandro Díaz Bernal, Mányeles Brito Vázquez, Magdalena de la Caridad Guirado Espinosa   +2 more
doaj  

CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]

Khyber Medical University Journal, 2018
Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees, Arshad Khushdil, Ujala Zakir, Zeeshan Ahmed   +3 more
doaj  

Maple Syrup Urine Disease (MSUD) detected in neurologic disorders Iraqi children

Journal of Contemporary Medical Sciences, 2016
Background Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, caused by a deficiency in the activity of the branched chain alpha-keto acid dehydrogenase impairing the degradation of the branched chain amino acids (leucine, isoleucine ...
Adel A. Kareem, Asaad Muhsen Abood, Abdul Mahdi A. Hasan   +2 more
doaj  

Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease

Orphanet Journal of Rare Diseases
Introduction Maple Syrup Urine Disease (MSUD) is a rare metabolic disorder requiring lifelong restriction of branched-chain amino acids (BCAAs), and targeted supplementation with valine and isoleucine to maintain metabolic stability.
Martina Tosi, Anne Daly, Sharon Evans, Alex Pinto, Catherine Ashmore, Anita MacDonald   +5 more
doaj   +1 more source