A GLUTARIC ACIDURIA TYPE 1; A RARE CASE REPORT AND LITERATURE REVIEW

Abstract

Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder, caused by deficiency of enzyme glutaryl-CoA dehydrogenase (GCDH)¹ .The onset of condition is usually heralded by acute encephalopathic findings, such as loss of normal developmental milestones, choreoathetosis and dystonia caused by acute striatal injury². Macrocephaly is often a clinical manifestation in these infants which precedes the neurological features.

We report a case of a 9-month-old child with macrocephaly, developmental regression, choreoathetoid movements who presented acutely with fever, fits and reluctance to feed.  He was initially admitted and treated for acute infective encephalopathy but later on the  diagnosis of glutaric aciduria type 1 was made on basis of CT, MRI and mass spectrometry. He was treated for acute infection and was discharged on tryptophan,

lysine restricted diet and carnitine supplementation.