scholarly journals Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.

1991 ◽  
Vol 87 (5) ◽  
pp. 1862-1866 ◽  
Author(s):  
Y Nobukuni ◽  
H Mitsubuchi ◽  
I Akaboshi ◽  
Y Indo ◽  
F Endo ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Repeat Sequence ◽  
Beta Subunit ◽  
Leader Peptide ◽  
Mitochondrial Targeting ◽  
Maple Syrup ◽  
Urine Disease ◽  
Branched Chain ◽  
Ketoacid Dehydrogenase ◽  
Dehydrogenase Complex

scholarly journals Maple Syrup Urine Disease in a Central Indiana Hereford Herd

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Mark E. Robarge ◽  
Jonathan E. Beever ◽  
Stephen D. Lenz ◽  
Christopher J. Lynch ◽  
William L. Wigle
Keyword(s):  
Maple Syrup Urine Disease ◽  
Index Case ◽  
Clinical Signs ◽  
Maple Syrup ◽  
Hereford Cattle ◽  
Urine Disease ◽  
Branched Chain ◽  
Ketoacid Dehydrogenase ◽  
Dehydrogenase Complex ◽  
T Haplotype

Maple syrup urine disease (MSUD) and further cases were identified in herd mates of a small Hereford herd in Indiana based on history, clinical signs, microscopic lesions, and biochemical and genetic testing. This aminoacidopathy has been diagnosed in polled Shorthorn, polled Hereford, and Hereford cattle in Australia, Uruguay, Argentina, and Canada and is the result of a mutation of the branched-chain alpha-ketoacid dehydrogenase complex. The Indiana index calf case was confirmed by showing the classic accumulation of ketoacids in liver that results from a defect in the E1-alpha subunit (248 C/T haplotype) in the mitochondrial branched-chainα-ketoacid dehydrogenase complex. The presence of the mutation was confirmed in the index case, the dam, and four related herd mates that represent the first confirmed cases of bovine MSUD mutation in United States cattle.

scholarly journals Impaired Assembly of E1 Decarboxylase of the Branched-chain α-Ketoacid Dehydrogenase Complex in Type IA Maple Syrup Urine Disease

1998 ◽  
Vol 273 (21) ◽  
pp. 13110-13118 ◽  
Author(s):  
R. Max Wynn ◽  
James R. Davie ◽  
Jacinta L. Chuang ◽  
Cynthia D. Cote ◽  
David T. Chuang
Keyword(s):  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Type Ia ◽  
Urine Disease ◽  
Branched Chain ◽  
Ketoacid Dehydrogenase ◽  
Dehydrogenase Complex

Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease

2018 ◽  
Vol 31 (2) ◽  
pp. 205-212 ◽  
Author(s):  
Monica Zeynalzadeh ◽  
Alireza Tafazoli ◽  
Azadeh Aarabi ◽  
Morteza Moghaddassian ◽  
Farah Ashrafzadeh ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Energy Levels ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Strong Correlations ◽  
Novel Mutations ◽  
Maple Syrup ◽  
Urine Disease ◽  
Branched Chain ◽  
Ketoacid Dehydrogenase

Abstract Background: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. The current study analyzed seven Iranian MSUD patients genetically and explored probable correlations between their genotype and phenotype. Methods: The panel of genes, including BCKDHA, BCKDHB and DBT, was evaluated, using routine the polymerase chain reaction (PCR)-sequencing method. In addition, protein modeling (homology and threading modeling) of the deduced novel mutations was performed. The resulting structures were then analyzed, using state-of-the-art bioinformatics tools to better understand the structural and functional effects caused by mutations. Results: Seven mutations were detected in seven patients, including four novel pathogenic mutations in BCKDHA (c.1198delA, c.629C>T), BCKDHB (c.652C>T) and DBT (c.1150A>G) genes. Molecular modeling of the novel mutations revealed clear changes in the molecular energy levels and stereochemical traits of the modeled proteins, which may be indicative of strong correlations with the functional modifications of the genes. Structural deficiencies were compatible with the observed phenotypes. Conclusions: Any type of MSUD can show heterogeneous clinical manifestations in different ethnic groups. Comprehensive molecular investigations would be necessary for differential diagnosis.

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. 

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