Results 1 to 10 of about 1,876 (162)

Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review [PDF]

Molecular Genetics and Metabolism Reports
Aim: To analyze the clinical phenotype and genetic etiology of three cases of glutaric aciduria type 1 (GA1) in Chinese children. Methods: We performed genetic and metabolic testing using tandem mass spectrometry (MS/MS) and gas chromatography–mass ...
Yunxi Chen, Qinghua Zhang, Lei Cao, Xuan Feng, Pengwu Lin, Shaohua Zhu, Furong Liu, Xing Wang, Shengju Hao, Yafei Cao, Hongyan Wang, Yali Ni   +11 more
doaj   +4 more sources

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails [PDF]

Italian Journal of Pediatrics
Background Glutaric aciduria type I (GA-I) is an autosomal recessive disorder affecting the metabolism of lysine, hydroxylysine, and tryptophan. Patients present in the first age of life with an irreversible motor disorder, and neuroradiological imaging ...
Vincenza Gragnaniello, Andrea Puma, Daniela Gueraldi, Ignazio D’Errico, Chiara Cazzorla, Christian Loro, Elena Porcù, Leonardo Salviati, Alberto B. Burlina   +8 more
doaj   +4 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   +3 more sources

Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene.

J Pediatr Neurosci, 2021
Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phenotype with novel pathogenic variant.
Gowda VK, Nagarajan B, Srinivasan VM, Bhat M.   +3 more
europepmc   +4 more sources

Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: Glutaric aciduria type 1 is a rare disease, with the estimated prevalence about 1 in 100,000 newborns. GCDH gene mutation can lead to glutaric acid and 3- OH glutaric acid accumulation, with clinical manifestation of neuronal damage, brain ...
Hsiu-Huei Peng, Sheng-Wen Shaw, Kuan-Gen Huang   +2 more
doaj   +3 more sources

Crotonylation-related gene GCDH promotes osteoarthritis pathogenesis through flavin adenine dinucleotide signaling: mechanism exploration and experimental validation [PDF]

Frontiers in Nutrition
IntroductionOsteoarthritis (OA) is a prevalent degenerative joint disorder characterized by progressive cartilage degradation and synovial inflammation.
Jingkai Di, Jingkai Di, Zijian Guo, Yijing Di, Luyi Zhang, Yingda Qin, Feida Wang, Chuan Xiang   +7 more
doaj   +2 more sources

Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. [PDF]

JIMD Rep, 2015
Glutaric acidemia I (GA I, #231670) is one of the treatable, autosomal recessively inherited metabolic disorders. Macrocephaly, acute encephalitis-like crises, dystonia and characteristic frontotemporal atrophy are the hallmarks of this disease. In this communication, we present the clinical, biochemical and molecular profile of seventeen GA I patients
Gupta N, Singh PK, Kumar M, Shastri S, Gulati S, Kumar A, Agarwala A, Kapoor S, Nair M, Sapra S, Dubey S, Singh A, Kaur P, Kabra M.   +13 more
europepmc   +4 more sources

Glutaryl-CoA dehydrogenase (GCDH) enhances renal malignancy risk via modulating glutarylcarnitine levels [PDF]

Discover Oncology
Background Crotonylation, a recently identified lysine acylation, plays a critical role in post-translational modifications [1]. It has been implicated in tumorigenesis by modulating metabolic reprogramming [2], DNA repair, immune evasion [3], and ...
Xuanshuo Liu, Bohua Chen, Jianghao Yuan, Shuhao Li, Lei Gao, Mingyan Chu, Shicang Fan, Weiwei Fan   +7 more
doaj   +2 more sources

Interplay of YEATS2 and GCDH regulates histone crotonylation and drives EMT in head and neck cancer [PDF]

eLife
The regulation of gene expression is an integral cellular process orchestrated by epigenetic marks like histone modifications. Perturbations in the activity or abundance of epigenetic factors can lead to tumorigenesis.
Deepak Pant, Parik Kakani, Rushikesh Joshi, Abin Sabu, Shruti Agrawal, Atul Samaiya, Sanjeev Shukla   +6 more
doaj   +2 more sources

Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. [PDF]

Biomed Res Int, 2016
Glutaric aciduria type 1 (GA1) is an autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase enzyme encoded by theGCDHgene. In this study, we presented the clinical and molecular findings of seven GA1 patients in Malaysia.
Abdul Wahab SA, Yakob Y, Abdul Azize NA, Md Yunus Z, Huey Yin L, Mohd Khalid MK, Lock Hock N.   +6 more
europepmc   +4 more sources