Results 21 to 30 of about 30,957 (287)

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

JIMD Reports, 2021
Maple syrup urine disease (MSUD) is a rare inborn metabolic disorder, managed with a strict protein‐restricted diet. At any time or age patients may still experience metabolic decompensations, requiring administration of branched chain amino acid (BCAA ...
Pascale de Lonlay, Roland Posset, Ulrike Mütze, Karine Mention, Delphine Lamireau, Manuel Schiff, Aude Servais, Jean Baptiste Arnoux, Anaïs Brassier, Myriam Dao, Claire Douillard, Chris Ottolenghi, Clément Pontoizeau, Federica Miotto, Jeannie Le Mouhaër   +14 more
openalex   +3 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

Nutritional deficiency dermatitis related to branched-chain amino acid restriction in a child with maple syrup urine disease [PDF]

, 2019
We present a one-year-old girl with maple syrup urine disease with dermatitis secondary to the restriction of amino acids as part of the treatment.
Andrés Eduardo Campuzano-García, Juan Pablo Castanedo-Cázares   +1 more
openalex   +4 more sources

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

CRRT: trattamento della crisi metabolica grave nella maple syrup urine disease

Giornale di Clinica Nefrologia e Dialisi, 2018
non ...
Pasquale Fatuzzo, Rossella R Marchese, Roberta Aliotta, Alessandra Pani, Luca Zanoli   +4 more
doaj   +4 more sources

Studies in Maple Syrup Urine Disease [PDF]

Archives of Disease in Childhood, 1961
C. E. Dent, R. G. Westall
openalex   +5 more sources

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Orphanet Journal of Rare Diseases, 2020
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex.
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo   +17 more
doaj   +2 more sources

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   +3 more sources

Maple Syrup Urine Disease [PDF]

, 2023
Lesczcynski, Mackenzie
core   +3 more sources

The use of botulinum toxin and epidural analgesia for the treatment of spasticity and pain in a patient with maple syrup urine disease

Saudi Journal of Anaesthesia, 2012
A 7-year-old boy, weighing 18 kg, was diagnosed with maple syrup urine disease (MSUD). He suffered from spasticity of the lower limbs and pain that did not respond to oral medications.
Abdullah M Kaki, Abeer A Arab
doaj   +2 more sources