Results 21 to 30 of about 12,812 (223)

Characterization, Structure, and Inhibition of the Human Succinyl-CoA:glutarate-CoA Transferase, a Putative Genetic Modifier of Glutaric Aciduria Type 1. [PDF]

ACS Chem Biol
Glutaric Aciduria Type 1 (GA1) is a serious inborn error of metabolism with no pharmacological treatments. A novel strategy to treat this disease is to divert the toxic biochemical intermediates to less toxic or nontoxic metabolites.
Wu R, Khamrui S, Dodatko T, Leandro J, Sabovic A, Violante S, Cross JR, Marsan E, Kumar K, DeVita RJ, Lazarus MB, Houten SM.   +11 more
europepmc   +2 more sources

Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020 [PDF]

Molecular Genetics and Metabolism Reports, 2020
Glutaric aciduria type 1 (GA1) is a severe inherited neurometabolic disorder whose clinical outcome has improved after implementation of newborn screening (NBS) programs and prompt beginning of guideline-directed presymptomatic metabolic treatment.
A. Mhanni, N. Aylward, N. Boy, B. Martin, A. Sharma, C. Rockman-Greenberg   +5 more
doaj   +2 more sources

A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases. [PDF]

Mol Genet Genomic Med
Glutaric aciduria type II (GA2) is a rare genetic disorder inherited in an autosomal recessive manner. Double dosage mutations in GA2 corresponding genes, ETFDH, ETFA, and ETFB, lead to defects in the catabolism of fatty acids, and amino acids lead to ...
Seyedtaghia MR, Jafarzadeh-Esfehani R, Hosseini S, Kobravi S, Hakkaki M, Nilipour Y.   +5 more
europepmc   +2 more sources

A Genetically Encoded Biosensor for Characterizing Transport and Metabolism of Glutarate

Advanced Science
Glutarate is a platform chemical with diversified applications. It is also an endogenous metabolite involved in various physiological processes. Deficiency in glutaryl‐CoA dehydrogenase (GcdH) for glutarate catabolism induces the inherited metabolic ...
Kaiyu Gao, Hui Zhang, Yidong Liu, Xianzhi Xu, Wei Liu, Zhaoqi Kang, Rong Xu, Shuang Hou, Ping Han, Chuanjuan Lü, Cuiqing Ma, Ping Xu, Chao Gao   +12 more
doaj   +2 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   +3 more sources

Audiological and otologic manifestations of glutaric aciduria type I [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our knowledge, this is the largest study
Yen-Chi Chen, Chii-Yuan Huang, Yen-Ting Lee, Chia-Hung Wu, Sheng-Kai Chang, Hsiu-Lien Cheng, Po-Hsiung Chang, Dau-Ming Niu, Yen-Fu Cheng   +8 more
doaj   +2 more sources

Glutaric aciduria type 1 – the mask cerebral palsy (case report)

Нервно-мышечные болезни
We report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease,
D. V. I, G. E. Shcherbakov, V. A. Duplishcheva, S. A. Seregin, D. D. Gaynetdinova   +4 more
doaj   +2 more sources

Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum. [PDF]

Glob Med Genet
Baskar D, Christopher R, Arunachal G, Anudeep DDS, Mounika A, Sangeeth TA, Polavarapu K, Shalini BS, Joshi T, Sanka SB, Nashi S, Raja P, Chowdary RM, Yadav R, Nalini A, Vengalil S.   +15 more
europepmc   +2 more sources

Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice. [PDF]

Mol Ther
Segur-Bailach E, Mateu-Bosch A, Bofill-De Ros X, Parés M, da Silva Buttkus P, Rathkolb B, Gailus-Durner V, Hrabě de Angelis M, Moeini P, Gonzalez-Aseguinolaza G, Tort F, Ribes A, van Karnebeek CDM, García-Villoria J, Fillat C.   +14 more
europepmc   +2 more sources

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

J Inherit Metab Dis
ABSTRACT 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. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Preisner F, Garbade SF, Harting I, Wortmann SB, Mühlhausen C, Heiland S, Bendszus M, Kölker S, Boy N.   +8 more
europepmc   +2 more sources