Recombinant Human GCDH
- Known as:
- Recombinant Human GCDH
- Catalog number:
- CG34
- Product Quantity:
- 10ug
- Category:
- -
- Supplier:
- Novoprotein
- Gene target:
- Recombinant Human GCDH
Related genes to: Recombinant Human GCDH
- 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: Recombinant Human GCDH
Related articles to: Recombinant Human GCDH
- Glutaric acidemia type 1 (GA-1) is a severe, life-threatening organic acidemia. This study aimed to evaluate fetal ultrasound findings as early clues for GA-1. - Source: PubMed
Publication date: 2026/05/10
Wang ShunanMeng XiangliZhang XiaoxiaoLi LuluTang YueKong YuanyuanWu Qingqing - Glutaric acidemia type 1 (GA1) is an autosomal recessive neurometabolic disorder caused by pathogenic variants in glutaryl-CoA dehydrogenase (GCDH), with variable clinical severity despite early biochemical detectability. Population-specific mutational spectra and genotype-phenotype correlations remain insufficiently defined in infantile-onset disease. Therefore, this study aimed to define the GCDH variant spectrum in GA1 patients with mild hepatopathy and assess genotype-phenotype correlations. We performed integrated clinical, biochemical, and molecular characterization of 15 unrelated patients with infantile-onset GA1. Whole-exome sequencing (WES) was performed for all participants, and the resulting data were compared with the reference sequence of the GCDH gene. All patients presented within the first 6 months of life with macrocephaly, seizures, dystonia, and feeding difficulties. Neurological impairment and mild hepatopathy were variably observed, and one patient developed an acute encephalopathic crisis. Six homozygous GCDH variants were identified, predominantly missense. A common variant, c.541G>C (p.Glu181Gln), accounted for 73.3% of cases and defined a consistent phenotype of early macrocephaly and movement disorder with frequent mild hepatic involvement, suggesting regional enrichment and raising the possibility of a founder effect that warrants confirmation in future haplotype studies. A truncating variant, c.382C>T (p.Arg128Ter), was associated with severe early encephalopathy. Exon 6 represented a mutational hotspot. Biochemically, all patients showed elevated urinary glutaric and 3-hydroxyglutaric acids, increased glutarylcarnitine, and low-to-normal free carnitine, with higher metabolite levels in clinically more severe cases. All variants were pathogenic or likely pathogenic and extremely rare in population databases. This cohort reveals a striking predominance of the GCDH c.541G>C variant and establishes a clear biochemical signature with genotype-associated clinical patterns in infantile-onset GA1. These findings support a population-specific mutational spectrum, refine genotype-phenotype correlations, and underscore the importance of early molecular diagnosis to guide targeted neurological and hepatic monitoring as well as regional screening strategies. - Source: PubMed
Publication date: 2026/04/18
Beyzaei ZahraGeramizadeh BitaDehghani Seyed MohsenInaloo SorourWeiskirchen Ralf - 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