A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
Mohammad Miryounesi ◽  
Soudeh Ghafouri-Fard ◽  
Hamedreza Goodarzi ◽  
Majid Fardaei
Keyword(s):  
Metabolic Disease ◽  
Missense Mutation ◽  
Maple Syrup Urine Disease ◽  
Autosomal Recessive ◽  
Maple Syrup ◽  
Urine Disease ◽  
Bckdhb Gene ◽  
Classic Form

AbstractMaple syrup urine disease (MSUD) is an autosomal recessive metabolic disease caused by mutations in the

Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease

2017 ◽  
Vol 32 (3) ◽  
pp. 765-772 ◽  
Author(s):  
Ling Su ◽  
Zhikun Lu ◽  
Fatao Li ◽  
Yongxian Shao ◽  
Huiying Sheng ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Urine Disease ◽  
Bckdhb Gene ◽  
Homozygous Mutations ◽  
Classic Form

Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)

Gene ◽  
2012 ◽  
Vol 498 (1) ◽  
pp. 112-115 ◽  
Author(s):  
Yue-Ping Wang ◽  
Man-Long Qi ◽  
Ting-Ting Li ◽  
Yun-Jing Zhao
Keyword(s):  
Maple Syrup Urine Disease ◽  
Novel Mutations ◽  
Maple Syrup ◽  
Urine Disease ◽  
Bckdhb Gene ◽  
Classic Form

Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Hong‐Hua Jiang ◽  
Yan Guo ◽  
Xian Shen ◽  
Ying Wang ◽  
Ting-Ting Dai ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Chinese Literature ◽  
Brain Mri ◽  
Classical Type ◽  
Novel Mutations ◽  
Maple Syrup ◽  
Gene Testing ◽  
Urine Disease ◽  
Bckdhb Gene ◽  
Branched Chain

Abstract Objectives To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. Methods Clinical data of a case of a newborn with MSUD was retrospectively studied. Literatures on MSUD in the local medical journals from January 1990 till December 2019 in China were reviewed. Results Two novel BCKDHB mutations c.90_91insCTGGCGCGGGG (p.Phe35TrpfsTer41) and c.80_90del (p.Ala32PhefsTer48) were identified. We found a total of 52 cases of MSUD reports so far. A total of 49 cases had the symptom of poor feeding (94.2%), 50 cases showed poor responses to stimulation (96.2%), 21 cases had odor of maple syrup (40.3%), 29 cases had seizures (55.7%), and 13 cases had respiratory failure (25.0%). The average of the blood ammonia was 127.2 ± 75.0 μmol/L. A total of 18 cases reported the gene testing, among of them 9 cases of BCKDHA mutations, 6 cases of BCKDHB mutations, and 2 cases of DBT mutations. A total of 13 cases (25%) were treated with mechanical ventilation, 50 cases (96.2%) with protein-restricted diet and l-carnitine, 29 cases with thiamine, and only 2 cases were treated with blood purification. Finally, 19 patients (36.5%) were died, 21 cases (40.4%) were improved after treatments. Conclusions The clinical phenotype of neonatal MSUD in China belongs to the classical type currently. Suspected patients should have blood or urine branched-chain amino acid levels tested and brain MRI as early as possible to enable early diagnosis, thus improvement in prognosis.

scholarly journals Hereditary characteristics of the S339L mutation in a patient with maple syrup urine disease in Vietnam

2020 ◽  
Vol 42 (2) ◽  
Author(s):  
Nguyen Thi Thu Huong ◽  
Vu Chi Dung ◽  
Nguyen Thi Thanh Ngan ◽  
Nguyen Kim Thoa ◽  
Nguyen Huy Hoang
Keyword(s):  
Amino Acids ◽  
Maple Syrup Urine Disease ◽  
Neurological Complications ◽  
Scientific Basis ◽  
Homozygous Mutation ◽  
Maple Syrup ◽  
Urine Disease ◽  
Bckdhb Gene ◽  
Branched Chain ◽  
Ketoacid Dehydrogenase

Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by malfunction of the branched-chain α-ketoacid dehydrogenase complex (BCKDH). This enzyme complex participates in the catalyzing metabolisms of the branched-chain α-ketoacids, the second step of the degradation of branched-chain amino acids. Impaired activities of the BCKAD complex lead to an increase of the levels of branched- chain amino acid such as leucine, valine, and isoleucine in the blood. In children with maple syrup urine disease, catalysis of the metabolisms of some amino acids failed to be implemented, leading to an accumulation of the amino acids which has been shown as one of the causes of neurological complications, intellectual disabilities, and nervous paralysis or even death. Pathogenic mutations normally occur in BCKDHA, BCKDHB, DBT and DLD genes which encode the E1α, E1β, and E2 subunits of the BCKDH complex. In the present study, a homozygous mutation in the BCKDHB gene (c. 1016C>T) in a pediatric patient with MSUD diagnosed at The National Hospital of Pediatrics was identified using whole exome and Sanger sequencing methods. As a result, the inheritance of the homozygous mutation related to MSUD in BCKDHB gene within the pedigree of the patient’s family was determined. The results indicated that the mutation in the BCKDHB gene was inherited from both of the patient’s parents. In addition, this finding provides an important scientific basis to  researches on MSUD in the Vietnamese population. 

scholarly journals Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease

2021 ◽  
Author(s):  
Xiaohua Fang ◽  
Xiaofan Zhu ◽  
Yin Feng ◽  
Ying Bai ◽  
Xuechao Zhao ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Mainland China ◽  
Autosomal Recessive Disorder ◽  
Maple Syrup ◽  
Targeted Next Generation Sequencing ◽  
Coding Regions ◽  
Targeted Ngs ◽  
Urine Disease ◽  
Bckdhb Gene ◽  
Branched Chain

Abstract Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 girls and 4 boys) with MSUD from 8 unrelated Chinese families were diagnosed at the age of 9 days to 1 year and 8 months. All the coding regions and exon/intron boundaries of BCKDHA, BCDKHB, DBT, DLD genes were analyzed by targeted NGS in the 8 MSUD pedigrees. Targeted NGS revealed 2 pedigrees with MSUD Ia, 5 pedigrees with Ib, 1 pedigree with MSUD II. Totally, 13 variants were detected, including 2 variants (p.Ala216Val and p.Gly281Arg) in BCKDHA gene，10 variants (p.Gly95Ala, p.Ser171Pro, p.Phe175Leu, p.Arg183Trp, p.Lys222Thr, p.Arg285Ter，p.Arg111Ter，p.S184Pfs*46, p.Arg170Cys, p.I160Ffs*25) in BCKDHB gene, 1 variants (p.Arg431Ter) in DBT gene. In addition, 4 previously unidentified variants (p.Gly281Arg in BCKDHA gene, p.Ser171Pro, p.Gly95Ala and p.Lys222Thr in BCKDHB gene) were found. NGS plus Sanger sequencing detection is effective and accurate for making gene diagnosis. Computational structural modeling indicated that these novel variations might affect structural stability.

scholarly journals Role of Diffusion Weighted MRI in Maple Syrup Urine Disease: Rare Cause of Neonatal Metabolic Encephalopathy

2013 ◽  
Vol 33 (3) ◽  
pp. 230-233
Author(s):  
Diva Shah ◽  
Apoorv Nirula ◽  
Dwiti Shah
Keyword(s):  
Maple Syrup Urine Disease ◽  
Diffusion Weighted Mri ◽  
Mri Findings ◽  
Metabolic Encephalopathy ◽  
Maple Syrup ◽  
Diffusion Weighted ◽  
Urine Disease ◽  
Classic Form ◽  
Branched Chain

The newborn presenting with neurological symptoms such as seizures or lethargy due to inborn error of metabolism is an important problem. Maple syrup urine disease (MSUD) is an inherited genetic disease, caused by a deficiency of the catalytic components of α-ketoaciddehydrogenase complex, which is responsible for the catabolism of branched-chain amino acids. The purpose of this case report is to show diffusion-weighted imaging (DWI) MRI findings of acute phase of classic form of MSUD in a newborn although this imaging findings are rare but very typical, known as “MSUD oedema”. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8365   J. Nepal Paediatr. Soc. 2013;33(3):230-233

Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity

2016 ◽  
Vol 29 (10) ◽  
Author(s):  
Maryam Abiri ◽  
Saeed Talebi ◽  
Jouni Uitto ◽  
Leila Youssefian ◽  
Hassan Vahidnezhad ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Autosomal Recessive ◽  
Sandhoff Disease ◽  
Compound Heterozygous ◽  
Inborn Errors ◽  
Maple Syrup ◽  
Cherry Red Spot ◽  
Urine Disease ◽  
Autosomal Recessive Manner

AbstractMost inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p.Ser231Pro and p.Ala300Ser in the

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