Results 31 to 40 of about 3,221 (198)

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

To longitudinally monitor a child with glutaric acidemia type 1: a case report

Arquivos de Neuro-Psiquiatria
Lorena Vilela Rezende, M. L. S. F. Santos, M. Zeny, Daniel Almeida do Valle, Tiago dos Santos Bara, Mariah Pereira Andrade Vallim, R. Júnior, Anderson Nitsche, Mara Lúcia Cordeiro   +8 more
semanticscholar   +2 more sources

Brain Magnetic Resonance Imaging in Organic Acidemias: A Single Center Experience [PDF]

Pediatric Sciences Journal, 2023
Background: Organic acidemias (OAs) are a group of inherited diseases with a defect of amino acid metabolism, unless treatment is initiated early in life, they cause serious central nervous system (CNS) complications as seizures, encephalopathy and ...
Mohamed F. Ibrahim Marian Y. Girgis, Marian Y. Girgis, Sara I. Nassar, Hadeel M. Seif , Sara M. Kamel, Mona A. Kamel   +5 more
doaj   +1 more source

Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. [PDF]

Brain, 2005
Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder characterized by a deficiency of glutaryl-CoA dehydrogenase (GCDH) activity. GA-1 is often associated with an acute encephalopathy between 6 and 18 months of age that causes striatal damage resulting in a severe dystonic movement disorder.
C. B. R. Funk, A. N. Prasad, P. Frosk, S. Sauer, S. Kölker, C. Greenberg, M. D. Del Bigio   +6 more
semanticscholar   +3 more sources

A rare case of type i glutaric aciduria in an early child

Медицинский вестник Юга России, 2020
Glutaric aciduria type I (deficiency of glutaryl-COA dehydrogenase, glutaric acidemia type I) is a rare autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl – COA - dehydrogenase (GCDH).
A. A. Lebedenko, S. B. Berezhanskay, A. S. Todorova, N. N. Vostrykh, E. Y. Kaushanskay, E. A. Lukyanova, E. A. Papsheva, G. N. Smykova, L. N. Taranenko   +8 more
doaj   +1 more source

¹H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies

Metabolites, 2021
The utility of low-resolution 1H-NMR analysis for the identification of biomarkers provided evidence for rapid biochemical diagnoses of organic acidemia and aminoacidopathy.
Ninna Pulido, Johana M. Guevara-Morales, Alexander Rodriguez-López, Álvaro Pulido, Jhon Díaz, Ru Angelie Edrada-Ebel, Olga Y. Echeverri-Peña   +6 more
doaj   +1 more source

A role of astrocytes in mediating postnatal neurodegeneration in Glutaric acidemia‐type 1 [PDF]

FEBS Letters, 2015
Astrocytes are crucial for postnatal development of neuronal networks, axon myelination and neurovascular structures. Defects in astrocyte generation or maturation are associated with severe neurological developmental disorders. Glutaric acidemia type I (GAI), an inherited neurometabolic disorder characterized by accumulation of glutaric (GA) and 3 ...
S. Olivera-Bravo, L. Barbeito
semanticscholar   +3 more sources

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

Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: Glutaric aciduria type 1 is a rare disease, with the estimated prevalence about 1 in 100,000 newborns. GCDH gene mutation can lead to glutaric acid and 3- OH glutaric acid accumulation, with clinical manifestation of neuronal damage, brain ...
Hsiu-Huei Peng, Sheng-Wen Shaw, Kuan-Gen Huang   +2 more
doaj   +1 more source

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

JIMD Reports, 2021
A 4‐year‐old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity.
Jason Foran, Michael Moore, Ellen Crushell, Ina Knerr, Niamh McSweeney   +4 more
doaj   +1 more source