RIBOFLAVIN-RESPONSIVE GLUTARIC ACIDURIA TYPE-II PRESENTING AS A LEUKODYSTROPHY

The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency i n infancy is characterized by recurrent episodes of hypoketotic hypogl ycemia and lipid storage myopathy, Brain damage has been described onl y as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical and psychomotor development un til the age of 3 years, who then developed progressive intention tremo rs, dysarthria, ataxia, and spastic tetraparesis. Episodes of acute me tabolic distress were never observed. Magnetic resonance imaging discl osed abnormal signals within the white matter of the brain and cerebel lum, suggesting leukodystrophy. Gas chromatography/mass spectrometry a nalysis revealed abnormally high levels of glutaric acid, dicarboxylic acids, and glycine derivatives in urine. Riboflavin therapy was initi ated at 4 years of age, when the patient had already lost control of t runk and head posture, Consistent improvement rapidly occurred after r iboflavin supplementation. Glutaric aciduria type II may cause brain d amage, in spite of the absence of acute metabolic distress, and should be considered in the differential diagnosis of leukodystrophies.