Results 41 to 50 of about 1,137 (152)
JIMD Reports, 2022 Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched‐chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched‐chain α‐ketoacid ...
Katsuyuki Yokoi +9 more
doaj +1 more source
Table1_Identification of gene mutations in six Chinese patients with maple syrup urine disease.DOCX
, 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 ...
Taoyun Ji (4860220) +11 more
core +1 more source
, 2018 Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes.
Ping Hu (59156) +9 more
core +1 more source
A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene [PDF]
Iranian Journal of Neonatology, 2017 Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex.
Alieh Mirzaee +7 more
doaj +1 more source
Mutation profile of BCKDHA BCKDHB and DBT genes for maple syrup urine disease in Turkey
, 2010 DURSUN, ALİ +9 more
core +7 more sources
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Molecular Genetics and Metabolism Reports, 2021 Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluids ...
Laura Guilder +8 more
doaj +1 more source
International Journal of Innovative Research and Scientific StudiesMaple Syrup Urine Disease (MSUD) is an inherited metabolic disorder caused by mutations in the genes BCKDHA, BCKDHB, DLD, and DBT, which are involved in the breakdown of branched-chain amino acids (BCAAs). The research aimed to characterize these mutations among MSUD patients from different regions and ethnic groups within Azerbaijan.
L.S. Huseynova +4 more
openaire +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk +39 more
wiley +1 more source
Adipocyte Myoglobin Is a Determinant of Energy Expenditure and a Potential Target to Limit Obesity
Advanced Science, Volume 13, Issue 51, 14 September 2026.Myoglobin, known as a muscle oxygen‐carrying protein, is shown to play a key role in fat cells that burn energy. Loss of myoglobin reduces the body's ability to generate heat and increases obesity risk, while restoring it improves metabolism. The study identifies myoglobin as a regulator of fat burning and a potential target to enhance energy ...
Christian Strehlau +22 more
wiley +1 more source
Journal of Genetic Medicine, 2014 defect in branched-chain α -keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder ...
Jung Min Ko +4 more
openaire +2 more sources