Results 1 to 10 of about 1,137 (152)

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
exaly   +7 more sources

Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease‐causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched‐chain α ...
Nguyen Huy Hoang
exaly   +5 more sources

Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease [PDF]

Annals of Indian Academy of Neurology
Shuyao Zhu
exaly   +7 more sources

A new frame shift pathogenic variant (c.773dupT) in the BCKDHB gene caused MSUD in an infant from north of Iran. [PDF]

Case Reports in Perinatal Medicine
Inborn errors of metabolism (IEMs) result from pathogenic variants in genes involved in essential metabolic pathways. Newborn screening (NBS) using tandem mass spectrometry (MS/MS) has facilitated the early detection and diagnosis of IEMs, enabling ...
Hossein Mokhtari, Mohammad Reza Mahdavi
exaly   +4 more sources

An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene

Stem Cell Research, 2021
Maple syrup urine disease (MSUD) type Ib is a subclass of MSUD (248600) which is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex. An induced pluripotent stem cell (iPSC) line was generated from an 11-
Haiyan Zhang, Zhongtao Gai
exaly   +5 more sources

Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids [PDF]

Stem Cell Research & Therapy
Background Maple syrup urine disease (MSUD) is an inherited metabolic disorder caused by a deficiency in the activity of the hepatic branched-chain α-ketoacid dehydrogenase (BCKDH) complex, which leads to the toxic accumulation of three branched-chain ...
Haiyan Zhang, Zirui Wan, Xiaomei Li, Bin Wang, Jingyun Guan, Yue Li, Xiaohua Jin, Xu Ma, Guohua Liu   +8 more
doaj   +2 more sources

S100A9 as a shared biomarker and mediator of metabolic dysfunction in peripheral artery disease and sarcopenia [PDF]

Frontiers in Genetics
BackgroundsPeripheral artery disease (PAD) frequently causes to persistent functional impairment in skeletal muscle even after successful revascularization, implicating non-ischemic pathological mechanisms.
Yaming Guo, Wenxin Zhao, Hai Feng, Yongjun Li, Yongjun Li   +4 more
doaj   +2 more sources

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant [PDF]

Orphanet Journal of Rare Diseases
Background Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by variants in any of the following genes: BCKDHA, BCKDHB, and DBT gene.
Panisara Lakkhana, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Parith Wongkittichote, Khunton Wichajarn, Chulaluck Kuptanon, Boonchai Boonyawat, Kanya Suphapeetiporn, Karn Wejaphikul, GoHun Seo, Duangrurdee Wattanasirichaigoon   +11 more
doaj   +2 more sources

Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease [PDF]

Scientific Reports
Maple Syrup Urine Disease (MSUD, OMIM# 248600) is an autosomal recessive inborn error of metabolism characterized by elevated branched chain amino acids (BCAA) leucine/isoleucine and valine in blood of affected children.
Zeinab S. Abdelkhalek, Shadia M. Hussein, Iman G. Mahmoud, Areef Ramadan, Mona A. Kamel, Marian Y. Girgis, Mohamed A. Elmonem   +6 more
doaj   +2 more sources

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