Results 1 to 10 of about 12,793 (206)

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   +5 more sources

Anaesthesia Management of a Pregnant Woman with Glutaric Aciduria Type 1 Undergoing Cesarean Section [PDF]

Turkish Journal of Anaesthesiology and Reanimation
Glutaric aciduria type 1 (GA-1) presents unique challenges for anaesthetists. This case report discusses anaesthesia management in a pregnant woman with GA-1 undergoing cesarean delivery.
Yağmur Demirel, Sevgi Kesici, Celal Kaya, Sibel Oba, Hacer Şebnem Türk   +4 more
doaj   +3 more sources

Rescue of glutaric aciduria type I in mice by liver-directed therapies. [PDF]

Sci Transl Med, 2023
Glutaric aciduria type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), the last enzyme of lysine catabolism.
Barzi M, Johnson CG, Chen T, Rodriguiz RM, Hemmingsen M, Gonzalez TJ, Rosales A, Beasley J, Peck CK, Ma Y, Stiles AR, Wood TC, Maeso-Diaz R, Diehl AM, Young SP, Everitt JI, Wetsel WC, Lagor WR, Bissig-Choisat B, Asokan A, El-Gharbawy A, Bissig KD.   +21 more
europepmc   +4 more sources

Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1. [PDF]

Cureus
Glutaric aciduria type 1 (GA-1) is a rare autosomal recessive metabolic disorder caused by the deficient activity of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH).
Srivastava P, Biswal SS, Kumar R, Swaroop S, Tanti SK.   +4 more
europepmc   +2 more sources

Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC [PDF]

Frontiers in Immunology, 2022
Hemophagocytic lymphocytosis (HLH) is a rare disease caused by inborn errors of immunity (IEI), secondary to infection, lymphoma or autoimmune disorders, but we often overlook the fact that HLH can be secondary to inborn errors of metabolism (IEM). Here,
Lingtong Huang, Wei Wu, Yijing Zhu, Huili Yu, Lingling Tang, Xueling Fang   +5 more
doaj   +2 more sources

Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review. [PDF]

Brain Behav
Glutaric aciduria Type 1 (GA‐1) is an autosomal recessive inherited disorder caused by GCDH variations. GA‐1 is a rare disease that typically manifests in infancy and early childhood, with adult‐onset cases being even rarer.
Wei L, Li J, Xie Z, Zhu Y, Chen J, Zhao Y, Yuan Y, Huang Y, Yang Y, Wang Z, Chen J.   +10 more
europepmc   +2 more sources

Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1. [PDF]

J Neurol
Glutaric aciduria type 1 (GA1) is a rare autosomal recessive organic acidaemia caused by deficiency of the glutaryl-CoA dehydrogenase enzyme. We describe the outcomes following deep brain stimulation (DBS) for the management of dystonia of children and ...
Lumsden DE, Tsagkaris S, Cleary J, Champion M, Mundy H, Mostofi A, Hasegawa H, McClelland VM, Bhattacharjee S, Silverdale M, Gimeno H, Ashkan K, Selway R, Kaminska M, Hammers A, Lin JP.   +15 more
europepmc   +2 more sources

Delayed Diagnosis of Glutaric Aciduria Type 1: A Case Report. [PDF]

Cureus
Newborn screening (NBS) is performed to screen for conditions where early intervention can make a difference in a patient’s prognosis. We present the case of a patient with glutaric aciduria type 1 (GA1) that was missed on NBS but was diagnosed through ...
Larancuent CE, Weiler T, Kana SL.
europepmc   +2 more sources

Remimazolam Anesthesia for a Pediatric Patient With Glutaric Aciduria Type I: A Case Report. [PDF]

Cureus
Glutaric aciduria type I (GA-1) is a rare metabolic disorder caused by an autosomal, recessive, inherited deficiency of glutaryl-CoA dehydrogenase. Reports on the anesthetic management of patients with GA-1 are limited.
Tsuruno T, Tateiwa H, Hashimoto Y, Katsumata Y, Kawano T.   +4 more
europepmc   +2 more sources

Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging. [PDF]

AJNR Am J Neuroradiol, 2023
BACKGROUND AND PURPOSE: Routine MR imaging has limited use in evaluating the severity of glutaric aciduria type 1. To better understand the mechanisms of brain injury in glutaric aciduria type 1, we explored the value of diffusional kurtosis imaging in ...
Bian B, Liu Z, Feng D, Li W, Wang L, Li Y, Li D.   +6 more
europepmc   +2 more sources