Results 41 to 50 of about 2,797 (225)
Glutaric aciduria type I : A case report
Indian Journal of Radiology and Imaging, 2006 Sompal Singh +4 more
openalex +2 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 +1 more source
A Genetically Encoded Biosensor for Characterizing Transport and Metabolism of Glutarate. [PDF]
Adv Sci (Weinh)Here, a genetically encoded glutarate biosensor, Glusor, is developed based on transcriptional regulator CsiR. Glusor can quantify glutarate concentrations with good accuracy and precision. Then, the role of KgtP and YnfM are identified and characterized by using Glusor. Glusor also allows glutarate spatiotemporal resolution in live cells, facilitating
Gao K +12 more
europepmc +2 more sources
Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias. [PDF]
Clin GenetThis 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 ...
Yin K, Qi Q.
europepmc +2 more sources
Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan
Анналы клинической и экспериментальной неврологии, 2020 Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) acids ...
Elena V. Saifullina +6 more
doaj +1 more source
Journal of Inborn Errors of Metabolism and Screening, 2021 Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA).
Carolina Arias +9 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2023 Background: Cerebral organic acid disorders are progressive neurometabolic diseases characterized by neurologic dysfunction. Glutaric aciduria type I (GA-I) and L-2-hydroxyglutaric aciduria (L2HGA) are the main cerebral organic acid disorders.
Ayse Ergül Bozaci +8 more
doaj +1 more source
A rare inborn error of metabolism masquerading as meningitis
Medical Journal of Dr. D.Y. Patil University, 2016 We hereby describe a 7-month-old female baby, born to first-degree cousins, who was initially diagnosed as meningitis based on the features of seizures and dystonia with fever.
Madhumita Nandi +2 more
doaj +1 more source
A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs. [PDF]
JIMD RepABSTRACT Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal ...
Yoldaş Çelik M +6 more
europepmc +2 more sources
Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I [PDF]
, 2007 Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease.
Banos +30 more
core +3 more sources