Abstract
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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Age of Onset
-
Aged
-
Atrophy / enzymology
-
Atrophy / genetics
-
Atrophy / physiopathology
-
Brain Diseases, Metabolic, Inborn / enzymology*
-
Brain Diseases, Metabolic, Inborn / genetics
-
Brain Diseases, Metabolic, Inborn / physiopathology*
-
Carnitine / therapeutic use
-
Cerebral Cortex / enzymology*
-
Cerebral Cortex / pathology
-
Cerebral Cortex / physiopathology*
-
Cognition Disorders / enzymology
-
Cognition Disorders / genetics
-
Cognition Disorders / physiopathology
-
DNA Mutational Analysis
-
Disease Progression
-
Food, Formulated
-
Glutaryl-CoA Dehydrogenase / deficiency*
-
Humans
-
Lateral Ventricles / pathology
-
Magnetic Resonance Imaging
-
Male
-
Movement Disorders / enzymology
-
Movement Disorders / genetics
-
Movement Disorders / physiopathology
-
Mutation / genetics
-
Nerve Fibers, Myelinated / pathology
-
Treatment Outcome
Substances
-
Glutaryl-CoA Dehydrogenase
-
Carnitine