Results 21 to 30 of about 1,169 (119)

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review [PDF]

BMC Medical Genomics
Background Maple syrup urine disease (MSUD) is a hereditary metabolic disorder caused by a deficiency in the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex.
Salma Younes, Razan Elkahlout, Houda Kilani, Sarah Okashah, Hussain Al Sharshani, Zoulikha Rezoug, Hatem Zayed, Nader Al-Dewik   +7 more
doaj   +2 more sources

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, Narges Pishva, Zohreh Karamizadeh, Jurgen Kohlhase, Shahnaz Purarian, Fariba Hemmati, Mostajab Razavi, Shiva Nasirabadi   +7 more
doaj   +1 more source

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

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   +1 more source

Differences in gene expression of enzymes involved in branched-chain amino acid metabolism of abdominal subcutaneous adipose tissue between pregnant women with and without PCOS

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: Polycystic ovary syndrome (PCOS) appears to be a common endocrine disorder of women in reproductive age. Adipose tissue (AT) is known as an active tissue in the metabolism of branched-chain amino acids (BCAA; Valine, Leucine, and Isoleucine ...
Shekoufeh Hajitarkhani, Ashraf Moini, Maryam Hafezi, Maryam Shahhoseini, AliReza Alizadeh   +4 more
doaj   +1 more source

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   +1 more source

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination

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   +1 more source

KEJADIAN INDEL SIMULTAN PADA INTRON 7 GEN BRANCHED-CHAIN Α-KETOACID DEHYDROGENASE E1A (BCKDHA) PADA SAPI MADURA

Jurnal Ilmu Pertanian Indonesia, 2015
Madura cattle is one of the Indonesian local cattle breeds derived from crossing between Zebu cattle (Bos indicus) and banteng (Bos javanicus). Branched-chain α-ketoacid dehydrogenase (BCKDH) is one of the main enzyme complexes in the inner mitochondrial
Asri Febriana, Achmad Farajallah, Dyah Perwitasari   +2 more
doaj   +1 more source

Response of Turbot Scophthalmus maximus (Linnaeus, 1758) to Imbalanced Branched-Chain Amino Acids in Diets

Fishes, 2023
The aim of this study was to investigate the effects of imbalanced dietary BCAAs, especially Leu, on the growth and BCAA metabolism in turbot. A control diet was formulated by keeping optimum levels of Leu, Ile and Val.
Lu Wang, Jinshi Liu, Yanlu Li, Qiang Ma, Houguo Xu, Mengqing Liang, Yuliang Wei   +6 more
doaj   +1 more source

Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population

Molecular Genetics and Metabolism Reports, 2014
Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence ...
Omar Tabbouche, Amer Saker, Harry Mountain   +2 more
doaj   +1 more source

Effects of leucine supplementation and serum withdrawal on branched-chain amino acid pathway gene and protein expression in mouse adipocytes.

PLoS ONE, 2014
The essential branched-chain amino acids (BCAA), leucine, valine and isoleucine, are traditionally associated with skeletal muscle growth and maintenance, energy production, and generation of neurotransmitter and gluconeogenic precursors. Recent evidence
Abderrazak Kitsy, Skyla Carney, Juan C Vivar, Megan S Knight, Mildred A Pointer, Judith K Gwathmey, Sujoy Ghosh   +6 more
doaj   +1 more source