Results 11 to 20 of about 2,273 (178)

Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model [PDF]

Molecular Therapy: Methods & Clinical Development
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disorder caused by a deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), with accumulation of neurotoxic metabolites, resulting in a complex movement disorder, irreversible brain damage ...
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, María José Barallobre, Maria Lourdes Arbonés, Sabrina Gea-Sorlí, Frederic Tort, Antonia Ribes, Judit García-Villoria, Cristina Fillat   +9 more
doaj   +5 more sources

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

Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH

Fundamental Research, 2022
Glutaric aciduria type I (GA-I) is an autosomal recessive genetic disorder caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Patients who do not receive proper treatment may die from acute encephalopathic crisis.
Lu Guo, Zhikun Li, Yuhuan Li, Bin Qu, Guanyi Jiao, Chen Liang, Zongbao Lu, Xin-Ge Wang, Cheng Huang, Hongwei Du, Jianmin Liang, Qi Zhou, Wei Li   +12 more
doaj   +3 more sources

Genetic analysis and prenatal diagnosis of novel GCDH variant responsible for glutaric aciduria type Ⅰ [PDF]

Xin yixue, 2022
Objective To identify pathogenic gene variants of glutaric aciduria typeⅠ (GAⅠ) and provide reference for prenatal diagnosis of this disease. Methods Genomic DNA was extracted from the family members of a suspected case of GAⅠ. Whole exome sequencing was
Dong Xingsheng, Wang Degang, Li Zhiming, Xiong Yi, Man Tingting
doaj   +2 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

Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9 [PDF]

Stem Cell Research, 2023
GCDH encodes for the enzyme catalyzing the sixth step of the lysine catabolism pathway. Biallelic pathogenic variants in GCDH have been associated with glutaric aciduria type 1 (GA1).
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +4 more sources

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

Molecular Genetics and Metabolism Reports, 2019
Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the ...
Felix-Julian Campos-Garcia, Oscar F. Chacon-Camacho, Silvina Contreras-Capetillo, Marisa Cruz-Aguilar, Carolina E. Medina-Escobedo, Claudia M. Moreno-Graciano, Agustín Rodas, Luz del Alba Herrera-Perez, Juan C. Zenteno   +8 more
doaj   +3 more sources

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1. [PDF]

J Inherit Metab Dis
ABSTRACT Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Preisner F, Garbade SF, Harting I, Wortmann SB, Mühlhausen C, Heiland S, Bendszus M, Kölker S, Boy N.   +8 more
europepmc   +2 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

Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum [PDF]

Global Medical Genetics
Glutaric aciduria type-1 (GA-1) is a rare metabolic disorder due to mutation in GCDH gene resulting in varied clinical manifestations. Here we report a case of late-onset GA-1 with acute myelo-neuropathy and chronic renal failure.
Dipti Baskar, Rita Christopher, Gautham Arunachal, Davuluri Durga Srinivas Anudeep, Ambati Mounika, TA Sangeeth, Kiran Polavarapu, BS Shalini, Tarachand Joshi, Sai Bhargava Sanka, Saraswati Nashi, Pritam Raja, Ravindranadh Mundlamuri Chowdary, Ravi Yadav, Atchayaram Nalini, Seena Vengalil   +15 more
doaj   +2 more sources