A novel mutation in the DBT gene causes in an Azerbaijanian child classic maple syrup urine disease

2022 ◽  
Vol 14 (1) ◽  
pp. 1-11
Author(s):  
Lala Samaddin Huseynova ◽  
Raya Rustam Hagverdiyeva
Keyword(s):  
Maple Syrup Urine Disease ◽  
Novel Mutation ◽  
Maple Syrup ◽  
Urine Disease

Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease

2009 ◽  
Vol 32 (S1) ◽  
pp. 33-36 ◽  
Author(s):  
R. Tammachote ◽  
S. Tongkobpetch ◽  
T. Desudchit ◽  
K. Suphapeetiporn ◽  
V. Shotelersuk
Keyword(s):  
Prenatal Diagnosis ◽  
Maple Syrup Urine Disease ◽  
Novel Mutation ◽  
Maple Syrup ◽  
Urine Disease

scholarly journals Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

2018 ◽  
Vol 6 (10) ◽  
pp. 1989-1993 ◽  
Author(s):  
Wenjie Li ◽  
Xianze Meng ◽  
Weiqing Wang ◽  
Jinfeng Lv ◽  
Yingmei Sun ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Maple Syrup ◽  
Urine Disease ◽  
Silico Analysis

scholarly journals A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease

2016 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Esmat Safdarian ◽  
Hamid Galehdari ◽  
Vahab Jafarian ◽  
Mohammad Shafee ◽  
Gholamreza Shariati ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Novel Mutation ◽  
Maple Syrup ◽  
Iranian Child ◽  
Urine Disease ◽  
Bckdhb Gene

Fatal course of maple syrup urine disease (MSUD) encephalopathy in a 6 year old boy with characteristic MRI-changes

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
V Boda ◽  
S Vlaho ◽  
S Dittrich ◽  
M Baz Bartels ◽  
S Parbel ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Fatal Course ◽  
Urine Disease ◽  
Mri Changes

scholarly journals Pregnancy in an adolescent with maple syrup urine disease: Case report

2021 ◽  
Vol 27 ◽  
pp. 100745
Author(s):  
Michelle E. Abadingo ◽  
Mary Ann R. Abacan ◽  
Jeanne Ruth U. Basas ◽  
Carmencita D. Padilla
Keyword(s):  
Case Report ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Disease Case ◽  
Urine Disease

scholarly journals Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

2021 ◽  
Vol 7 (2) ◽  
pp. 25
Author(s):  
Mona Sajeev ◽  
Sharon Chin ◽  
Gladys Ho ◽  
Bruce Bennetts ◽  
Bindu Parayil Sankaran ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Maple Syrup Urine Disease ◽  
Dietary Intervention ◽  
Brain Mri ◽  
Prenatal Testing ◽  
Intermediate Form ◽  
Motor Delay ◽  
Maple Syrup ◽  
Hyperintense Signal ◽  
Urine Disease

Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficiency. We report the case of a female infant who presented with mild gross motor delay at 4 months, and seizures with hypoglycaemia at 5 months. Newborn screening returned total leucine/isoleucine at the 99.5th centile of the population; however, as second-tier testing reported minimal alloisoleucine, the results were considered inconsistent with MSUD. Plasma amino acid and urine organic acid analyses at 5 months were, however, consistent with a diagnosis of MSUD. A brain MRI showed bilateral symmetrical T2 hyperintense signal abnormalities involving white matter, globus pallidus, thalamus, brainstem, and dentate nuclei with restricted diffusion. A repeat MRI 10 months post-dietary-intervention showed the resolution of these changes and progression in myelination. Her clinical phenotype, including protein tolerance, correlated with intermediate MSUD. Molecular analysis of all three genes identified two variants of uncertain significance, c.434-15_434-4del and c.365A>G (p. Tyr122Cys) in the DBT gene. The rate of leucine decarboxylation in fibroblasts was reduced, but not to the extent observed in classical MSUD patients, supporting an intermediate form of MSUD. Previously reported mRNA splicing studies supported a deleterious effect of the c.434-15_434-4del variant. This functional evidence and confirmation that the variants were in trans, permitted their reclassification as pathogenic and likely pathogenic, respectively, facilitating subsequent prenatal testing. This report highlights the challenges in identifying intermediate MSUD by newborn screening, reinforcing the importance of functional studies to confirm variant pathogenicity in this era of molecular diagnostics.

scholarly journals Molecular basis of various forms of maple syrup urine disease in Chilean patients

2021 ◽  
Author(s):  
Diana Ruffato Resende Campanholi ◽  
Ana Vitoria Barban Margutti ◽  
Wilson A. Silva ◽  
Daniel F. Garcia ◽  
Greice A. Molfetta ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
Molecular Basis ◽  
Maple Syrup ◽  
Urine Disease

A Case Report of Anaesthetic Considerations for Maple Syrup Urine Disease during pregnancy and delivery

2021 ◽  
pp. 103208
Author(s):  
L Hughes ◽  
D O'Flaherty ◽  
JJ O'Byrne ◽  
J Donnelly ◽  
F O'Shaughnessy ◽  
...  
Keyword(s):  
Case Report ◽  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Pregnancy And Delivery ◽  
Urine Disease

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.

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