Results 71 to 80 of about 5,871 (233)

Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings

Radiology Case Reports
Glutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited
Pradeep Raj Regmi, MD, Aalok Kumar Yadav, MD, Bibek Koirala, MD, Shreelal Yadav, MD, Suraj Shrestha, MBBS   +4 more
doaj   +1 more source

Cardioprotective potential of simvastatin in the hyperhomocysteinemic rat heart

Journal of Advanced Pharmaceutical Technology & Research, 2012
The present study investigated the probable role of simvastatin, 3-hydroxymethyl-glutaryl coenzyme A (HMG-CoA) reductase inhibitor, in abrogated cardioprotection in hyperhomocysteinemic (Hhcy) rat hearts.
Ankur Rohilla, M U Khan, Razia Khanam
doaj   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Zum Mechanismus der 2-Hydroxyglutaryl-CoA Dehydratase aus Clostridium symbiosum [PDF]

, 2004
Das 2-Hydroxyglutaryl-CoA-Dehydratase-System ist das Schlüsselenzym in der Fermentation von Glutamat zu Acetat, Butyrat, CO2 und H2 durch Clostridium symbiosum und Acidaminococcus fermentans. Die Dehydratase katalysiert die syn-Dehydratisierung von (R)-2-
Buckel, Wolfgang, Hetzel, Marc
core   +1 more source

A Case of Glutaric Aciduria Type I with a Novel Mutation

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2.
Nilgun Uyduran Unal, Deniz Kor, Didem Yucel, Gulen Gul Mert, Neslihan Onenli Mungan   +4 more
doaj  

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   +1 more source

Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I? [PDF]

, 2015
This Master Thesis was carried out at the University of Lausanne and is part of the master's curriculum in the School of Medicine(1). All manipulations have been done at the laboratory of the "Centre des Maladies Moléculaires" (CMM) which is part of the "
PARATA, G.
core  

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. [PDF]

PLoS ONE, 2013
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap.
Paris Jafari, Olivier Braissant, Petra Zavadakova, Hugues Henry, Luisa Bonafé, Diana Ballhausen   +5 more
doaj   +1 more source

What are the information needs of parents caring for a child with Glutaric aciduria type 1? [PDF]

, 2019
BACKGROUND: Newborn screening has enabled the early diagnosis of Glutaric aciduria type 1, with the possibility of improving neurological outcomes in affected children.
Hart, Anthony R, Piercy, Hilary, Yap, Sufin, Yeo, Mildrid   +3 more
core   +1 more source

Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency [PDF]

Brain, 2007
Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency (GA1) develop striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, we retrospectively studied imaging results from 25 Amish GA1 patients homozygous for 1296C>T mutations in GCDH. Asymptomatic infants
Kevin A, Strauss, Jelena, Lazovic, Max, Wintermark, D Holmes, Morton   +3 more
openaire   +2 more sources