Glutaric acidemia type 1: a case report

ABSTRACT

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. 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. Medical treatment combined with nutritional support in GA1 management signs of serious illness; also dietary treatment may control progression of the neurological damage