Chapter title |
Glutaric Acidemia Type 1: A Case of Infantile Stroke.
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Chapter number | 26 |
Book title |
JIMD Reports, Volume 38
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Published in |
JIMD Reports, April 2017
|
DOI | 10.1007/8904_2017_26 |
Pubmed ID | |
Book ISBNs |
978-3-66-256609-1, 978-3-66-256610-7
|
Authors |
Kaya Ozcora, Gül Demet, Gokay, Songul, Canpolat, Mehmet, Kardaş, Fatih, Kendirci, Mustafa, Kumandaş, Sefer, Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş |
Abstract |
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. 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. 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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United States | 1 | 100% |
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Members of the public | 1 | 100% |
Mendeley readers
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Unknown | 11 | 100% |
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Student > Bachelor | 5 | 45% |
Researcher | 2 | 18% |
Student > Ph. D. Student | 1 | 9% |
Student > Doctoral Student | 1 | 9% |
Unknown | 2 | 18% |
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Psychology | 1 | 9% |
Nursing and Health Professions | 1 | 9% |
Unknown | 2 | 18% |