Glutaric Acidemia Type 1: Case Report

Authors

  • Mohsen Mazidi Biochemistry and Nutrition Research Center, Department of Nutrition, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Mohsen Nematy Biochemistry and Nutrition Research Center, Department of Nutrition, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Zarin Banikazemi Biochemistry and Nutrition Research Center, Department of Nutrition, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
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 GA1was 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 oldand 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 managementsigns of serious illness; also dietary treatment control may are needed to reduce progression of the neurological damage.

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Journal title

volume 2  issue 1

pages  97- 99

publication date 2014-01-01

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