Subject
Humans; Male; Aged; Treatment Outcome; Disease Progression; Magnetic Resonance Imaging; Food; Q3 Literature Search; Brain Diseases; Age of Onset; DNA Mutational Analysis; Mutation/genetics; Metabolic; Atrophy/enzymology/genetics/physiopathology; Carnitine/therapeutic use; Cerebral Cortex/enzymology/pathology/physiopathology; Cognition Disorders/enzymology/genetics/physiopathology; Formulated; Glutaryl-CoA Dehydrogenase/deficiency; Inborn/enzymology/genetics/physiopathology; Lateral Ventricles/pathology; Movement Disorders/enzymology/genetics/physiopathology; Myelinated/pathology; Nerve Fibers
Description
Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.
2005