Results 51 to 60 of about 4,483 (224)

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Journal of Inherited Metabolic Disease, 2022
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl‐CoA dehydrogenase (GCDH) and ...
N. Boy, C. Mühlhausen, E. Maier, D. Ballhausen, M. Baumgartner, S. Beblo, P. Burgard, K. Chapman, D. Dobbelaere, Jana Heringer-Seifert, S. Fleissner, K. Grohmann-Held, G. Hahn, I. Harting, G. Hoffmann, F. Jochum, D. Karall, Vassiliki Konstantopoulous, M. Krawinkel, M. Lindner, E. Märtner, J. Nuoffer, J. Okun, B. Plecko, Roland Posset, Katja Sahm, S. Scholl-Bürgi, E. Thimm, Magdalena Walter, Monique Williams, S. Dahl, Athanasia Ziagaki, J. Zschocke, S. Kölker   +33 more
semanticscholar   +1 more source

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner, Edmar Zanoteli, Heinz Jungbluth, Henry Houlden, Janice L Holton, Jefferson Becker, Renata Siciliani Scalco, Robert DS Pitceathly, Ros Quinlivan   +8 more
core   +4 more sources

The use of specialized products of children’s dietary medical nutrition for children with organic aciduria (acidemia)

Лечащий Врач, 2021
To assess the efficacy, safety and tolerability of the products specialized children's dietary nutritional therapy in children with Inherited disorders of amino acid metabolism from birth to three years.
N. A. Semenova, E. A. Shestopalova, L. V. Lyazina, S. I. Kutsev   +3 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9

Stem Cell Research, 2023
GCDH encodes for the enzyme catalyzing the sixth step of the lysine catabolism pathway. Biallelic pathogenic variants in GCDH have been associated with glutaric aciduria type 1 (GA1).
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +1 more source

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity [PDF]

, 2017
Background: Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder.
Bodamer, Olaf, Boy, Nikolas, Brackmann, Renate, Harting, Inga, Heringer, Jana, Kölker, Stefan, Seitz, Angelika   +6 more
core   +1 more source

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I [PDF]

, 2015
Background: Glutaric aciduria type I (GA-I) is an inherited metabolic disease due to deficiency of glutaryl-CoA dehydrogenase (GCDH). Cognitive functions are generally thought to be spared, but have not yet been studied in detail.
Boy, Nikolas, Burgard, Peter, Garbade, Sven F., Glahn, Esther M., Haege, Gisela, Heringer, Jana, Hoffmann, Georg F., Kölker, Stefan   +7 more
core   +1 more source

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data

Journal of Inherited Metabolic Disease, 2023
Glutaric aciduria type 1 (GA1) is caused by inherited deficiency of glutaryl‐CoA dehydrogenase (GCDH). To further understand the unclear genotype–phenotype correlation, we transfected mutated GCDH into COS‐7 cells resembling known biallelic GCDH variants
Yuheng Yuan, Bianca Dimitrov, N. Boy, F. Gleich, Matthias Zielonka, S. Kölker   +5 more
semanticscholar   +1 more source

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]

, 2017
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M   +6 more
core   +1 more source

Inhibition of cytochrome c oxidase activity in rat cerebral cortex and human skeletal muscle by d-2-hydroxyglutaric acid in vitro [PDF]

, 1926
l-2-Hydroxyglutaric (LGA) and d-2-hydroxyglutaric (DGA) acids are the characteristic metabolites accumulating in the neurometabolic disorders known as l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria, respectively.
da Silva, Cleide G, Ribeiro, César A.J, Leipnitz, Guilhian, Dutra-Filho, Carlos S, Wyse, Ângela T.S, Wannmacher, Clóvis M.D, Sarkis, João J.F, Jakobs, Cornelis, Wajner, Moacir   +8 more
core   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources