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Glutaric Acidemia Type 1: A Case of Infantile Stroke

Kaya Ozcora, Gül Demet ; Gokay, Songul ; Canpolat, Mehmet ; Kardaş, Fatih ; Kendirci, Mustafa ; Kumandaş, Sefer Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 38, 2018, Vol.38, p.7-12 [Periódico revisado por pares]

Germany: Springer Berlin / Heidelberg

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  • Título:
    Glutaric Acidemia Type 1: A Case of Infantile Stroke
  • Autor: Kaya Ozcora, Gül Demet ; Gokay, Songul ; Canpolat, Mehmet ; Kardaş, Fatih ; Kendirci, Mustafa ; Kumandaş, Sefer
  • Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias
  • Assuntos: gene ; Glutaric acidemia type 1 ; Infant stroke ; Missense mutation ; Protein restricted diet
  • É parte de: JIMD Reports, Volume 38, 2018, Vol.38, p.7-12
  • Notas: ObjectType-Article-1
    SourceType-Scholarly Journals-1
    ObjectType-Feature-2
    content type line 23
    Communicated by: Piero Rinaldo, MD, PhD
  • Descrição: Background: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms. Case Report: A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI. Clinical manifestation, MRI findings, and metabolic investigations directed thoughts towards GA-I. Molecular genetic testing revealed a homozygous c.572T>C (p.M191T) mutation in GCDH gene which confirmed the diagnosis. Application of protein restricted diet, carnitine and riboflavin supplementations prevented the progression of Magnetic Resonance Imaging (MRI) and clinical pathologic findings during the 1 year of follow-up period. Conclusion: This case is of great importance since it shows possibility of infantile stroke in GA-1, significance of early diagnosis and phenotypic variability of disease.
  • Títulos relacionados: JIMD Reports
  • Editor: Germany: Springer Berlin / Heidelberg
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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