Results 31 to 40 of about 4,483 (224)

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

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   +2 more sources

Glutaric aciduria type 1 – the mask cerebral palsy (case report)

Нервно-мышечные болезни
We report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease,
D. V. I, G. E. Shcherbakov, V. A. Duplishcheva, S. A. Seregin, D. D. Gaynetdinova   +4 more
doaj   +2 more sources

Glutaric aciduria type 1: Typical aspects in imaging

Edorium Journal of Radiology, 2022
Glutaric aciduria type 1 is an autosomal recessive lysine and tryptophan disorder characterized by glutamic acid and other metabolic by-product accumulation. This disease can be diagnosed in the postnatal period, supported by magnetic resonance imaging (MRI) and confirmed by biochemistry.
Hajar Zebbakh, Ibrahima Dokal Diallo, Najlae Lrhorfi, D Alami, Nazik Allali, Latifa Chat   +5 more
openaire   +2 more sources

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A study from Tawam Hospital Metabolic Center, United Arab Emirates [PDF]

Sultan Qaboos University Medical Journal, 2014
Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal ...
Aisha Al-Shamsi, Jozef L. Hertecant, Sania Al-Hamad, Abdul-Kader Souid, Fatma Al-Jasmi   +4 more
doaj   +4 more sources

Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model. [PDF]

PLoS ONE, 2014
Acute neurological crises involving striatal degeneration induced by a deficiency of glutaryl-CoA dehydrogenase (GCDH) and the accumulation of glutaric (GA) and 3-hydroxyglutaric acid (3-OHGA) are considered to be the most striking features of glutaric ...
Xi Fu, Hongjie Gao, Fengyan Tian, Jinzhi Gao, Liping Lou, Yan Liang, Qin Ning, Xiaoping Luo   +7 more
doaj   +2 more sources

Brain morphometric analysis in patients with glutaric aciduria type 1

Molecular Genetics and Metabolism
Abstract This prospective study aimed to identify the affected brain structures and their functional correlations in the cortical and subcortical regions in patients with glutaric aciduria type 1 (GA-1). Seventeen patients with GA-1 and 17 healthy controls (HCs) were included (mean age, 38 ± 17 months; both contained 6 males). Three-dimensional-
BingYang, Bian, ChengXiang, Liu, Lei, Zhang, Pu, Tian, ZhuoHang, Liu, XiaoNa, Zhu, Peng, Liu, Dan, Li   +7 more
openaire   +3 more sources

Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1 [PDF]

Orphanet Journal of Rare Diseases
Background Glutaric Aciduria Type 1 (GA-1) is a rare metabolic disorder characterized by a deficiency in glutaryl-coenzyme A dehydrogenase (GDH), leading to the accumulation of neurotoxic compounds that affect neurodevelopment.
Zamora-Crespo Berta, Moreno-Ramos Zaida, Martínez de Aragón Ana, Núñez-Enamorado Noemí, Martin-Bejarano Manuela, Villaluenga Raquel, Barrio Delia, Bellusci Marcello, Martín-Hernández Elena, Quijada-Fraile Pilar   +9 more
doaj   +2 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   +1 more source

Microencephaly in macrocephaly: Rare report of two siblings with glutaric aciduria type 1

Annals of Movement Disorders, 2021
Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal metabolism of lysine, hydroxylysine and tryptophan with ...
Ayush Agarwal, Divyani Garg, Sangeeta Agarwal   +2 more
doaj   +1 more source

Practical aspects of therapy for glutaric aciduria type 1

Нервно-мышечные болезни, 2021
Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in the ...
E. Yu. Zakharova, S. V. Mikhailova, V. V. Zarubina, N. A. Krasnoshchekova, N. L. Pechatnikova, V. P. Vorontsova, D. I. Gribov, M. V. Zazivihina, А. N. Slatetskaya, M. V. Kurkina, P. V. Baranova, L. P. Nazarenko, S. А. Repina, L. R. Selimsyanova, N. D. Vashakmadse, T. V. Bushueva   +15 more
doaj   +1 more source