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Glutaric Acidemia Type 1: A Case of Infantile Stroke

  • Gül Demet Kaya Ozcora
  • Songul Gokay
  • Mehmet Canpolat
  • Fatih Kardaş
  • Mustafa Kendirci
  • Sefer Kumandaş
Research Report
Part of the JIMD Reports book series (JIMD, volume 38)

Abstract

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.

Keywords

GCDH gene Glutaric acidemia type 1 Infant stroke Missense mutation Protein restricted diet 

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Gül Demet Kaya Ozcora
    • 1
  • Songul Gokay
    • 2
  • Mehmet Canpolat
    • 1
  • Fatih Kardaş
    • 2
  • Mustafa Kendirci
    • 2
  • Sefer Kumandaş
    • 1
  1. 1.Faculty of Medicine, Department of Pediatrics, Division of Pediatric NeurologyErciyes UniversityKayseriTurkey
  2. 2.Division of Pediatric Nutrition and MetabolismErciyes UniversityKayseriTurkey

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