Exploring genotype–phenotype correlations in glutaric aciduria type 1
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12608
Abstract: Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase (GCDH). We performed an extensive literature search to collect data on GA1 patients,… read more here.
Keywords: pathogenic variants; phenotype; aciduria type; glutaric aciduria ... See more keywords
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12618
Abstract: Glutaric aciduria type 1 (GA1) is caused by inherited deficiency of glutaryl‐CoA dehydrogenase (GCDH). To further understand the unclear genotype–phenotype correlation, we transfected mutated GCDH into COS‐7 cells resembling known biallelic GCDH variants of 47… read more here.
Keywords: aciduria type; glutaric aciduria; correlation; protein ... See more keywords
Deep Brain Stimulation and Intrathecal/Intraventricular Baclofen for Glutaric Aciduria Type 1: A Scoping Review, Individual Patient Data Analysis, and Clinical Trials Review.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12638
Abstract: Glutaric aciduria type 1 (GA1) is an autosomal recessive disease frequently leading to dystonia. Deep brain stimulation (DBS), intrathecal baclofen (ITB), and intraventricular baclofen (IVB) are the current interventional treatment options for refractory dystonia. We… read more here.
Keywords: clinical trials; deep brain; aciduria type; glutaric aciduria ... See more keywords
Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12633
Abstract: We report on the second child of unrelated, healthy Caucasian parents, born following an uneventful pregnancy and living in Romania. He attained normal developmental milestones until eleven months when he was admitted to hospital for… read more here.
Keywords: type hemidystonia; ischemic stroke; glutaric aciduria; atypical glutaric ... See more keywords
Impairment of astrocytic glutaminolysis in glutaric aciduria type I
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0096-5
Abstract: Glutaric aciduria type I is a rare, autosomal recessive, inherited defect of glutaryl-CoA dehydrogenase. Deficiency of this protein in L-lysine degradation leads to the characteristic accumulation of nontoxic glutarylcarnitine and neurotoxic glutaric acid (GA), glutaryl-CoA,… read more here.
Keywords: glutaric aciduria; impairment astrocytic; aciduria type; astrocytic glutaminolysis ... See more keywords
Rescue of glutaric aciduria type I in mice by liver-directed therapies
Sign Up to like & getrecommendations! Published in 2023 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.adf4086
Abstract: Glutaric aciduria type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl–coenzyme A dehydrogenase (GCDH), the last enzyme of lysine catabolism. Current literature suggests that… read more here.
Keywords: brain; aciduria type; glutaric aciduria; liver directed ... See more keywords
What are the information needs of parents caring for a child with Glutaric aciduria type 1?
Sign Up to like & getrecommendations! Published in 2019 at "BMC Pediatrics"
DOI: 10.1186/s12887-019-1742-x
Abstract: BackgroundNewborn screening has enabled the early diagnosis of Glutaric aciduria type 1, with the possibility of improving neurological outcomes in affected children. Achieving those outcomes requires parents to effectively manage their child’s condition by adherence… read more here.
Keywords: aciduria type; information; condition; glutaric aciduria ... See more keywords
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency
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DOI: 10.3390/genes12050703
Abstract: Glutaric aciduria type II (GA-II) is a rare autosomal recessive disease caused by defects in electron transfer flavoprotein (ETF), ultimately causing insufficiencies in multiple acyl-CoA dehydrogenase (MAD). 3-phosphoglycerate dehydrogenase (3-PHGDH) deficiency, is another rare autosomal… read more here.
Keywords: glutaric aciduria; etfdh phgdh; serine deficiency; aciduria type ... See more keywords