Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1. [PDF]
Int J Mol Sci, 2023 Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants associated with the disease and their impact on GCDH activity suggest that disturbed protein ...
Barroso M +8 more
europepmc +7 more sources
Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH).
Jinfu Zhou +7 more
doaj +5 more sources
Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene.
Yiming Lin +6 more
doaj +6 more sources
A novel mutation in the glutaryl‐CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1 [PDF]
Clinical Case Reports, 2021 Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in‐silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop.
Sima Rayat, Saeid Morovvati
doaj +6 more sources
Prenatal Ultrasound and Magnetic Resonance Findings of Glutaric Acidemia Type 1 and Its Challenges in Prenatal Diagnosis [PDF]
Journal of Medical UltrasoundGlutaric acidemia type 1 (GA1) presents unique challenges in prenatal diagnosis, especially in cases with no family history. This review article aims to review and present the prenatal ultrasound and magnetic resonance findings of GA1 and consolidate key
Jo-Ting Wang +2 more
doaj +5 more sources
Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry [PDF]
Molecular Genetics and Metabolism Reports, 2015 Glutaric acidemia type 1 (GA1) is a rare inherited metabolic disorder which goes underdiagnosed due to its latency period and subtle presentation. A pilot clinical study was conducted to assess the usefulness, specificity and sensitivity of the tandem ...
Ruby P. Babu +6 more
doaj +5 more sources
Orthopaedic manifestations of glutaric acidemia Type 1. [PDF]
J Child Orthop, 2020 Purpose Glutaric acidemia type 1 (GA1), a rare hereditary metabolic disease caused by biallelic mutations of GCDH, can result in acute or insidious striatal degeneration within the first few years of life.
Imerci A +3 more
europepmc +5 more sources
GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN
Khyber Medical University Journal, 2022 INTRODUCTION: Glutaric aciduria type 1 is a neurometabolic disorder occurring due to deficient activity of glutaryl-CoA dehydrogenase. Multiple neurotoxic metabolites start accumulating in plasma, CSF and urine which are detected by mass spectrometry ...
Noshaba Noor, Hira Waseem
doaj +3 more sources
Case report: Lysine improvement in siblings with glutaric acidemia type 1 following reduced medical food intake: Implications for amino acid absorption and reabsorption [PDF]
Molecular Genetics and Metabolism ReportsGlutaric acidemia type 1 (GA1) is a rare metabolic disorder requiring dietary management with lysine (Lys)-free, tryptophan (Trp)-reduced, and arginine (Arg)-fortified medical formulas.
Grace Noh, Jariya Upadia
doaj +3 more sources
Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1. [PDF]
J Med ChemAllosteric regulators acting as pharmacological chaperones hold promise for innovative therapeutics since they target noncatalytic sites and stabilize the folded protein without competing with the natural substrate, resulting in a net gain of function ...
Barroso M +11 more
europepmc +2 more sources