scholarly journals Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

2017 ◽  
pp. 89-96 ◽  
Author(s):  
Paula J. Waters ◽  
Thomas M. Kitzler ◽  
Annette Feigenbaum ◽  
Michael T. Geraghty ◽  
Osama Al-Dirbashi ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Glutaric Aciduria ◽  
Type 3

Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3

2018 ◽  
Vol 61 (7) ◽  
pp. 388-392 ◽  
Author(s):  
Jorge La Serna-Infantes ◽  
Miguel Chávez Pastor ◽  
Milana Trubnykova ◽  
Félix Chavesta Velásquez ◽  
Flor Vásquez Sotomayor ◽  
...  
Keyword(s):  
Gene Deletion ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria ◽  
Contiguous Gene ◽  
Type 3

scholarly journals Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

2008 ◽  
Vol 83 (5) ◽  
pp. 604-609 ◽  
Author(s):  
Eric A. Sherman ◽  
Kevin A. Strauss ◽  
Silvia Tortorelli ◽  
Michael J. Bennett ◽  
Ina Knerr ◽  
...  
Keyword(s):  
Genetic Mapping ◽  
Glutaric Aciduria Type ◽  
Chromosome 7 ◽  
Glutaric Aciduria ◽  
Type 3

scholarly journals Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains

2020 ◽  
Author(s):  
João Leandro ◽  
Aaron Bender ◽  
Tetyana Dodatko ◽  
Carmen Argmann ◽  
Chunli Yu ◽  
...  
Keyword(s):  
Organic Acid ◽  
Glutaric Acid ◽  
Inbred Mice ◽  
Glutaric Aciduria Type ◽  
Mouse Strains ◽  
Glutaric Aciduria ◽  
Naturally Occurring ◽  
Coa Transferase ◽  
Type 3 ◽  
The Impact

AbstractThe glutaric acidurias are a group of inborn errors of metabolism with different etiologies. Glutaric aciduria type 3 (GA3) is a biochemical phenotype with uncertain clinical relevance caused by a deficiency of succinyl-CoA:glutarate-CoA transferase (SUGCT). SUGCT catalyzes the succinyl-CoA-dependent conversion of glutaric acid into glutaryl-CoA preventing urinary loss of the organic acid. Here, we describe the presence of a GA3 trait in mice of 129 substrains due to SUGCT deficiency, which was identified by screening of urine organic acid profiles obtained from different inbred mouse strains including 129S2/SvPasCrl. Molecular and biochemical analyses in an F2 population of the parental C57BL/6J and 129S2/SvPasCrl strains (B6129F2) confirmed that the GA3 trait occurred in Sugct129/129 animals. We evaluated the impact of SUGCT deficiency on metabolite accumulation in the glutaric aciduria type 1 (GA1) mouse model. We found that GA1 mice with SUGCT deficiency have decreased excretion of urine 3-hydroxyglutaric acid and decreased levels glutarylcarnitine in urine, plasma and kidney. Our work demonstrates that SUGCT contributes to the production of glutaryl-CoA under conditions of low and pathologically high glutaric acid levels. Our work also highlights the notion that unexpected biochemical phenotypes can occur in widely used inbred animal lines.Take home messageGlutaric aciduria type 3 is a naturally occurring trait in mice of the 129 substrains

scholarly journals Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains

2021 ◽  
Vol 132 (2) ◽  
pp. 139-145
Author(s):  
João Leandro ◽  
Aaron Bender ◽  
Tetyana Dodatko ◽  
Carmen Argmann ◽  
Chunli Yu ◽  
...  
Keyword(s):  
Inbred Mice ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria ◽  
Biochemical Trait ◽  
Naturally Occurring ◽  
Type 3

Use of guidelines improves the neurological outcome in glutaric aciduria type I

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
J Heringer ◽  
SPN Boy ◽  
R Ensenauer ◽  
B Assmann ◽  
J Zschocke ◽  
...  
Keyword(s):  
Neurological Outcome ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Development of Neuropsychological Functions in Patients with Glutaric Aciduria Type I

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
N. Boy ◽  
J. Heringer ◽  
G. Haege ◽  
E. Glahn ◽  
G. Hoffmann ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Neuropsychological Functions
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