Results 21 to 30 of about 3,221 (198)

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study [PDF]

Scientific Reports
Organic acidemias (OADs) are a group of congenital metabolic disorders whose incidence, disease spectrum, and genetic profiles differ greatly across countries. This study aimed to determine the characteristics of OADs in Quanzhou, China.
Yiming Lin, Chunmei Lin, Zhenzhu Zheng, Yanru Chen, Faming Zheng, Weihua Lin   +5 more
doaj   +2 more sources

Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1

JIMD Reports
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl‐CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3‐hydroxyglutaric acid (3‐HG).
Denis Cyr, Michel Boutin, Bruno Maranda, Paula J. Waters   +3 more
doaj   +2 more sources

Neurological manifestations in glutaric acidemia type 1 and the impact of expanded neonatal screening in Brazil [PDF]

Journal of Clinical Images and Medical Case Reports, 2021
Glutaric acidemia type 1 (GA1) is an inborn error of metabolism caused by the deficiency of the enzyme glutaryl-CoA dehydrogenase, with consequent accumulation of the aminoacids lysine, hydroxylsine and tryptophan.
Ada Maria Farias Sousa Borges, R. García   +1 more
semanticscholar   +2 more sources

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

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   +2 more sources

Neonatal necrotizing enterocolitis complicated by glutaric acidemia type II: a case report [PDF]

Frontiers in Pediatrics
Glutaric acidemia type II (GAII) is an autosomal recessive genetic metabolic disorder associated with mitochondrial dysfunction, characterized by multiple acyl-CoA dehydrogenase deficiency that affects fatty acid metabolism.
Yuli Zhang, Yuli Zhang, Longfei Chen, Miao Duan   +3 more
doaj   +2 more sources

Demographic and clinical features of glutaric acidemia type 1; a high frequency among isolates in Upper Egypt

Egyptian Journal of Medical Human Genetics, 2014
Objective: Glutaric acidemia type 1 (GA1) was thought to be a rare disorder in Arab countries. Recently, a relatively large number of patients with GA1 have been detected in Egypt.
Osama K. Zaki, Heba Salah Elabd, Shaimaa Gad Ragheb, Dina A. Ghoraba, Ahmed Essam Elghawaby   +4 more
doaj   +3 more sources

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails. [PDF]

Ital J Pediatr
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
Gragnaniello V, Puma A, Gueraldi D, D'Errico I, Cazzorla C, Loro C, Porcù E, Salviati L, Burlina AB.   +8 more
europepmc   +3 more sources

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.

Molecular Genetics and Metabolism, 2020
Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal degeneration in >80% of affected children before two years of age. We analyzed clinical, biochemical, and developmental outcomes for 168 genotypically diverse GA1 patients managed at a ...
K. Strauss, Katie B Williams, Vincent J. Carson, Laura Poskitt, Lauren E. Bowser, Millie Young, Donna L. Robinson, Christine Hendrickson, Keturah Beiler, Cora M. Taylor, Barbara Haas‐Givler, Jennifer Hailey, Stephanie A. Chopko, E. Puffenberger, Karlla W Brigatti, F. Miller, D. Morton   +16 more
semanticscholar   +4 more sources

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias. [PDF]

Clin Genet
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 ...
Yin K, Qi Q.
europepmc   +2 more sources

Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening [PDF]

Pediatrics International, 2018
AbstractBackgroundGlutaryl carnitine (C5DC) in dried blood spots is used as a biomarker for glutaric aciduria type 1 (GA‐1) screening. C5DC, however, is the only screening marker for this condition, and various pathological conditions may interfere with C5DC metabolism.
M. Matsumoto, H. Awano, R. Bo, M. Nagai, Kazumi Tomioka, Masahiro Nishiyama, Takeshi Ninchouji, H. Nagase, M. Yagi, I. Morioka, Y. Hasegawa, Y. Takeshima, K. Iijima   +12 more
semanticscholar   +3 more sources