Ask about this productRelated genes to: GCDH antibody
- Gene:
- GCDH NIH gene
- Name:
- glutaryl-CoA dehydrogenase
- Previous symbol:
- -
- Synonyms:
- ACAD5
- Chromosome:
- 19p13.13
- Locus Type:
- gene with protein product
- Date approved:
- 1992-12-17
- Date modifiied:
- 2017-12-15
Related products to: GCDH antibody
Related articles to: GCDH antibody
- Inborn errors of metabolism (IEM) are frequently underdiagnosed in low-resource settings due to limited diagnostic infrastructure. We hypothesized that an integrated clinical-genomic approach could improve diagnosis and management of these conditions. Nineteen Pakistani families with clinically suspected IEM underwent systematic clinical assessment, available biochemical testing, and whole-exome sequencing (WES). Variants were classified according to ACMG/AMP guidelines using evidence from population databases, in silico prediction tools, segregation analysis, and genotype-phenotype correlation. Clinical diagnoses and management strategies were reassessed based on molecular findings. WES provided a molecular diagnosis in 90% (17/19) of families and enabled targeted therapeutic interventions in 70% (13/19). However, clinical outcomes were variable due to advanced disease in some cases and limited follow-up. Seven novel variants were identified in CYP27B1, DYM, MTTP, ALDH3A2, USP53, BRAF, and JAG1, while twelve recurrent mutations were detected in PIGN, GCDH, CLCN7, RNASEH2C, ABCB11, MPV17, IDUA, SMPD1, FBP1, SLC37A4, ACADM, and UGT1A1. Integrating genomic findings with clinical reassessment improved diagnostic precision. An integrated clinical-genomic approach enabled accurate diagnosis of pediatric IEM in resource-limited settings, with particular utility in children with metabolic disorders in a consanguineous population. Identification of both novel and recurrent variants expanded the genotypic and phenotypic spectrum of these disorders and highlighted the clinical utility of genomic diagnostics in optimizing patient care. - Source: PubMed
Publication date: 2026/04/13
Mansoor SumreenaAbid SabeenImran MuhammadMalik Munir IqbalAli QamarHussain ShanawazAli Hafiz AsimMasood YasserChoudhry ShehlaQamar RaheelAzam Maleeha - Glutaric aciduria type 1 is caused by inherited deficiency of glutaryl-CoA dehydrogenase and subsequent accumulation of neurotoxic metabolites. Clinically, the disease is characterized by striatal damage and dystonic movement disorder in untreated infants. Despite newborn screening and pre-symptomatic therapy start, about one-third of patients still develop neurological symptoms. Furthermore, progressive white matter changes and chronic kidney disease highlights the need for improved therapies. To elucidate the potential of substrate reduction therapy for GA1 we investigated whether aminoadipate-semialdehyde synthetase, the first enzyme of the lysine oxidation pathway, could serve as therapeutic target. Therefore, we studied whether knockout (KO) mice, a known animal model for GA1, were rescued by additional knockout of . KO mice were clinically indistinguishable from wild-type mice and showed a marked reduction of glutaric acid in brain (20.9 µg/mg protein vs. 59.2 µg/mg protein; = 0.001), liver (23.5 µg/mg protein vs. 104.8 µg/mg protein; = 0.001), and urine (11.9 mol/mol creatinine vs. 166.5 mol/mol creatinine; = 0.001). The effect was less pronounced for 3-hydroxyglutaric acid. Unlike KO mice, KO mice did not develop a severe phenotype under high-lysine diet. In conclusion, knockout of partially rescues the severe phenotype of KO mice, providing a potential therapeutic target. - Source: PubMed
Publication date: 2026/03/31
Saad CelineJung-Klawitter SabineDimitrov BiancaAguilar-Pimentel Juan AntonioBecker Loreda Silva-Buttkus PatriciaDragano Nathalia R VGarrett LillianHölter Sabine MRathkolb BirgitSanz-Moreno AdriánSpielmann NadineFuchs HelmutGailus-Durner ValerieSchaaf Christian Pla Marca GiancarloDamiano RobertaLefeber Dirk JEngelke Udo de Angelis Martin HrabeHouten Sander MKölker Stefan - Dysregulation of propionate metabolism can enhance the invasive properties of lung adenocarcinoma (LUAD) cells and increase their metastatic potential. Therefore, we constructed a predictive model based on propionate metabolism-related genes (PMRGs) to evaluate the prognosis of patients with LUAD. - Source: PubMed
Publication date: 2026/01/04
Li Min MinFu Wei JiaZhou YingZhang Huan HuanLi Hai NingZhang ChuYang Jin - The expansion of newborn screening in France (2023-2025) to include carnitine metabolism disorders has increased false positives, often due to unsuspected maternal metabolic conditions. We report the first french incidental diagnosis of a glutaric acidemia type I in a mother following a low C0 carnitine level detected on her newborn's screening. Genetic analysis revealed a previously undescribed mutation in the gene at a homozygote state consistent with an asymptomatic but high-excretor biochemical profile. - Source: PubMed
Publication date: 2026/02/26
Grillet Pierre-EdouardMarelli CeciliaMondésert EtienneFrancois-Heude Marie-CélineRoubertie AgatheSabourdy FrédériqueCristol Jean-PaulAcquaviva CécileBadiou Stéphanie - The oleaginous yeast is an attractive chassis for sustainable production of long‑chain ω‑3 polyunsaturated fatty acids (PUFAs). Polyketide synthase (PKS)-like PUFA synthases bypass the canonical oxygen‑dependent desaturase/elongase route, yet the influence of precursor availability on PKS product selectivity in remains unclear. - Source: PubMed
Publication date: 2026/03/04
Qi HangRies FabianJovanovic Gasovic SofijaDietrich DemianGemperlein KatjaMüller RolfKohlstedt MichaelWittmann Christoph