Results 41 to 50 of about 17,667 (261)

Glutaryl-CoA dehydrogenase deficiency [PDF]

, 2020
openaire   +2 more sources

Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families

Нервно-мышечные болезни, 2021
Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase.
S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P.   Vorontsova, D.  I.   Gribov, M.   V. Zhivihina, A. N.   Slatetskaya, R.  V.   Magzhanov, V. A.  Samokhvalov, M.  N.  Virtseva, L.     P. Borscheva, E.  E.  Koh, M.   V.  Novikova, A. V.   Abrukova, E.     Yu. Belyashova, N.    Yu. Gerasimenko, L.     V. Guseva, Zh.     V. Yukhimenko, N.     V. Nikitina, T.  I.   Belyaeva, T.   A.  Shkurko, N.   A.  Pichkur, V.     S. Kakaulina, N.   L. Pechatnikova, N .  A. Polyakova, S.    A. Korostelev, D.    V. Pyankov, I.   V. Kanivets, N.   A.  Demina, E.     Yu. Pyrkova, G.     V. Baidakova, M.    V. Kurkina, E.   Yu.  Zakharova   +32 more
doaj   +1 more source

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

International Journal of Neonatal Screening, 2021
Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase.
Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut   +13 more
doaj   +1 more source

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, Blemings, Cathy Housman, Colon, Cornford, Daniel, Daniel, Hayashi, Ian Simpson, James P. O’Callaghan, James R. Connor, Jelena Lazovic, Juliet, Kathryn LaNoue, Keith C. Cheng, Kyllerman, Leibel, Lowry, Michael Woontner, Miller, Provencher, Rao, Russell, Russell E. Jacobs, Stephen I. Goodman, Strauss, Strauss, Tews, Vonsattel, William J. Zinnanti, Williamson   +30 more
core   +3 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, Rim V. Magzhanov, Anzhelika I. Davletova, Al’bina K. Mardanova, Ekaterina A. Timofeyeva, Marina V. Kurkina, Ekaterina Yu. Zakharova   +6 more
doaj   +1 more source

Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile

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, Isabel Hidalgo, María Florencia Salazar, Juan Francisco Cabello, Felipe Peñaloza, Pilar Peredo, Alf Valiente, Karen Fuenzalid, Patricio Guerrero, Verónica Cornej   +9 more
doaj   +1 more source

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

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study [PDF]

, 2021
The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany.
Baumgartner, Matthias R., Beblo, Skadi, Boy, Nikolas, Das, Anibh M., Dieckmann, Andrea, Freisinger, Peter, Garbade, Sven F., Grünert, Sarah C., Guder, Philipp, Haase, Claudia, Hoffmann, Georg F., Krämer, Johannes, Kölker, Stefan, Lindner, Martin, Maier, Esther M., Marquardt, Iris, Märtner, E. M. Charlotte, Mühlhausen, Chris, Näke, Andrea, Roloff, Sylvia, Rutsch, Frank, Schiergens, Katharina A., Thimm, Eva, Walter, Magdalena   +23 more
core   +1 more source

Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase

JIMD Reports, 2019
3‐Hydroxyglutaric acid (3‐OH‐GA) in urine has been identified as the most reliable diagnostic marker for glutaric aciduria type I (GA I). We showed that hydratation of glutaconyl‐CoA to 3‐hydroxyglutaryl‐CoA, which is subsequently hydrolyzed to 3‐OH‐GA ...
Verena Peters, Marina Morath, Matthias Mack, Michael Liesert, Wolfgang Buckel, Georg F. Hoffmann, Jerry Vockley, Sandro Ghisla, Johannes Zschocke   +8 more
doaj   +1 more source

Dystonia and Infantile Glutaric Acidemia

Pediatric Neurology Briefs, 1989
Glutaric acidemia, an autosomal recessively inherited disease caused by deficiency of glutaryl-CoA dehydrogenase, was manifested by acute dystonia in 3 infants reported from the Children's Hospital of Pittsburgh, Pennsylvania.
J Gordon Millichap
doaj   +1 more source