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

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

scholarly journals Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity

2020 ◽  
Author(s):  
Ana Vitoria Barban Margutti ◽  
Wilson Araújo Silva ◽  
Daniel Fantozzi Garcia ◽  
Greice Andreotti de Molfetta ◽  
Adriana Aparecida Marques ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
In Silico Analysis ◽  
Clinical Severity ◽  
Inborn Errors ◽  
Cross Sectional ◽  
Maple Syrup ◽  
Molecular Features ◽  
Study Results ◽  
Urine Disease ◽  
Branched Chain

Abstract Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by BCKDHA , BCKDHB , DBT , and DLD genes. MSUD is predominantly caused by Variants in BCKDHA , BCKDHB , and DBT genes encoding the E1α, E1β, and E2 subunits of BCKD complex, respectively. The aim of this study was to characterize the genetic basis of MSUD by identifying the point variants in BCKDHA , BCKDHB , and DBT genes in a cohort of Brazilian MSUD patients and to describe their phenotypic heterogeneity. It is a descriptive cross-sectional study with 21 MSUD patients involving PCR and sequencing. Results: Nine new variants predicted as pathogenic were found between 30 variants identified in the 21 patients analyzed: two in the BCKDHA gene (p.Gly56Arg, and p.Tyr120Ter); five in the BCKDHB gene (p.Gly131Val, p.Glu146Glnfs*13, p.Phe149Cysfs*9, p.Cys207Phe, and p.Lys211Asn); and two in the DBT gene (p.Glu148Ter and p.Glu417Val). Seventeen pathogenic variants were previously described and four variants showed no pathogenicity according to in silico analysis. Conclusion: Given that most of the patients received late diagnoses, the study results do not allow us to state that the molecular features of MSUD variant phenotypes are predictive of clinical severity. Keywords: inborn errors of metabolism; maple syrup urine disease; branched-chain amino acids; valine; leucine; isoleucine.

THE ROLE OF THIAMIN IN MAPLE SYRUP URINE DISEASE

1982 ◽  
Vol 378 (1 Thiamin) ◽  
pp. 404-421 ◽  
Author(s):  
Louis J. Elsas ◽  
Dean J. Danner
Keyword(s):  
Maple Syrup Urine Disease ◽  
Maple Syrup ◽  
Urine Disease

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

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