“CEREBRAL PALSY MIMIC OF A 5YEAR OLD GIRL CHILD”

Abstract

Summary: Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by deficiency of Glutaryl CoA dehydrogenase, a mitochondrial matrix enzyme involved in the degradation of lysine, hydroxyl lysine and trypophan[1] resulting in accumulation of glutaric acid,3-hydroxy glutaric acid in central nervous system. The estimated prevalence of GA-I is approximately 1 in 1,00,000 live births.[2] The classic symptom of glutaric aciduria type I (GAI) is irreversible focal striatal necrosis during an acute illness, most often between the ages of 3 and 18 months termed as “Encephalopathic crisis” results in dystonic-dyskinetic disorder.