Urwa Khalil, Fizza Agha, Tahira Nazir, Madiha Fayyaz, Khawaja Khurshid, Tahir Masood Ahmad.
Glutaric Aciduria Type 1: a Rare Case Report and Literature Review.
Pak Paed J Jan ;46(3):326-30.

Glutaric aciduria type 1 (GA-1) is a metabolic disorder caused by deficiency of an enzyme, glutaryl-CoA-dehydrogenase (GCDH) and is inherited in an autosomal recessive way. The onset of condition is usually heralded by an acute encephalopathic presentation such as loss of already acquired developmental milestones, choreoathetosis and dystonia which results from acute striatal injury. Macrocephaly is often a clinical manifestation in these infants which precedes neurological features. This is the case report of a nine 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 GA-1 was made on the basis of further evaluation like CT scan, MRI and mass spectrometry. He was treated for acute infection and was discharged on a special diet with lysine free and low tryptophan powdered infant formula (Formula GA-1 Anamix) and supplementation of carnitine.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com