Results 11 to 20 of about 4,483 (224)

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1. [PDF]

J Inherit Metab Dis
Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype.
Preisner F, Garbade SF, Harting I, Wortmann SB, Mühlhausen C, Heiland S, Bendszus M, Kölker S, Boy N.   +8 more
europepmc   +3 more sources

Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1 [PDF]

Open Biology, 2022
In humans, a single enzyme 2-aminoadipic semialdehyde synthase (AASS) catalyses the initial two critical reactions in the lysine degradation pathway.
João Leandro, Susmita Khamrui, Chalada Suebsuwong, Peng-Jen Chen, Cody Secor, Tetyana Dodatko, Chunli Yu, Roberto Sanchez, Robert J. DeVita, Sander M. Houten, Michael B. Lazarus   +10 more
doaj   +3 more sources

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

Sci Rep, 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.
Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, Marquardt I, Das AM, Freisinger P, Grünert SC, Krämer J, Baumgartner MR, Beblo S, Haase C, Dieckmann A, Lindner M, Näke A, Hoffmann GF, Mühlhausen C, Walter M, Garbade SF, Maier EM, Kölker S, Boy N.   +23 more
europepmc   +4 more sources

Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review [PDF]

Molecular Genetics and Metabolism Reports
Aim: To analyze the clinical phenotype and genetic etiology of three cases of glutaric aciduria type 1 (GA1) in Chinese children. Methods: We performed genetic and metabolic testing using tandem mass spectrometry (MS/MS) and gas chromatography–mass ...
Yunxi Chen, Qinghua Zhang, Lei Cao, Xuan Feng, Pengwu Lin, Shaohua Zhu, Furong Liu, Xing Wang, Shengju Hao, Yafei Cao, Hongyan Wang, Yali Ni   +11 more
doaj   +3 more sources

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

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   +3 more sources

The combined neurogenetic disorders; blended phenotype of Metachromatic Leukodystrophy (MLD) and glutaric aciduria type 1 (GA -1) in an Indian child [PDF]

Annals of Indian Academy of Neurology, 2023
Vykuntaraju K Gowda, Viveka Santhosh Reddy, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane   +3 more
doaj   +3 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

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

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

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