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.
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Communicated by: Piero Rinaldo, MD, PhD
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Details of the Contributions of Individual Authors
Gül Demet Kaya Ozcora, Mustafa Kendirci, Sefer Kumandaş: collected the data, conducted the analyses and interpretation of the data, and prepared early drafts of the paper.
Gül Demet Kaya Ozcora, Mustafa Kendirci, Sefer Kumandaş: conceptualized and supervised development of the research, assisted with analysis and interpretation of the data and contributed to writing the manuscript.
Gül Demet Kaya Ozcora, Songül Gökay: participated in the collection of the data and helped manuscript preparation.
Mehmet Canpolat, Fatih Kardaş: helped in recruitment and provide testing facilities.
All authors read and approved the final manuscript.
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Gul Demet Kaya Ozcora, MD
Erciyes University Medical School, Department of Pediatrics, Division of Pediatric Neurology, Melikgazi, Kayseri, Turkey
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E-mail: guldemetkaya@hotmail.com
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The authors declare that there is no conflict of interest regarding this work.
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Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Parents provided informed consent prior to use their child’s history information, genetic test results, photographs, and video images. Signed consent form for publication was obtained.
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Kaya Ozcora, G.D., Gokay, S., Canpolat, M., Kardaş, F., Kendirci, M., Kumandaş, S. (2017). Glutaric Acidemia Type 1: A Case of Infantile Stroke. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 38. JIMD Reports, vol 38. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_26
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DOI: https://doi.org/10.1007/8904_2017_26
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