ABSTRACT
Glutaric aciduria was first described by Goodman et al.[1] in two siblings who began at 3 and 7 months of age to have a neurodegenerative disorder characterized by opisthotonos, dystonia and spasticity. One had a chronic compensated metabolic acidosis in which the serum bicarbonate concentration ranged from 7.5 to 15.7 mEq/L. It has now become apparent that macrocephaly is a prominent, often the initial, manifestation in infancy [2,3].
