case report of glutaric aciduria type 1
Abstract
Inborn errors of metabolism are a heterogenous group of disorders which present with developmental delay or regression, episodes of lethargy, poor feeding, vomiting and seizures. Majority of the conditions are inherited as autosomal recessive trait(1). Therefore history of consanguinity in the parents or an unexplained death in the neonatal period may raise the question of an inherited metabolic disease in the sick infant. Glutaric aciduria type 1 is an organic academia presenting with developmental arrest or regression, extrapyramidal disorder in infancy(2). Macrocephaly is a common finding in these infants(1,2). It is one of the differential diagnosis for extrapyramidal cerebral palsy. Early diagnosis and aggressive may prevent striatal necrosis and ensures a favourable prognosis(2).
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