Title of article
Glutaric Acidemia Type 1: A Case Report
Author/Authors
Banikazemi، Zarin نويسنده Biochemistry and Nutrition Research Center, Department of Nutrition, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. , , Mazidi، Mohsen نويسنده Biochemistry and Nutrition Research Center, Mashhad University of Medical Sciences (MUMS), Mashhad, Iran. , , Nematy، Mohsen نويسنده Department of Nutrition, Biochemistry of Nutrition, Endoscopic & Minimally Invasive Surgery, and Cancer Research Centers, School of Medicine, Mashhad ,
Issue Information
فصلنامه با شماره پیاپی 2 سال 2014
Pages
3
From page
97
To page
99
Abstract
Introduction:
Glutaric academia type I is a metabolic disorder that is caused due to deficiency of glutaryl-CoA dehydrogenase. Macrocephaly is a common sign in GA1, although many infants usually appear healthy at birth.
Case Report:
A 5.5 year old boy with GA1 was admitted to NICU. Chief compliance of patient for hospitalization was pneumonia and sepsis and he was intubated and mechanically ventilated. This disease was diagnosed with signs of set developmental delay at 8 months old and during these years; he was under control for nutritional counseling with a nutritionist and pediatrician. Nutritional support for this patient was in NICU.
Conclusion:
Medical treatment combined with nutritional support in GA1 management signs of serious illness; also dietary treatment may control progression of the neurological damage.
Journal title
International Journal of Pediatrics
Serial Year
2014
Journal title
International Journal of Pediatrics
Record number
1041659
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