Cause and Pathogenesis of Neurometabolic Disorders

On this protocol we will see patients of all ages with a neurodegenerative disorder of unknown etiology, as well patients with known diseases that are atypical or present difficult management problems. Patients with a known or a suspected leukodystrophy will be excluded from this study. Lack of specific diagnosis amplifies the distress felt by patients and families and decreases the chance of effective therapy. Clinical and laboratory evaluation will include blood, urine, spinal fluid, peripheral tissue pathology and radiological studies.

- INCLUSION CRITERIA Patients are those referred by their physician for a second opinion because of inability to arrive at a diagnosis despite a reasonably complete evaluation. Written informed consent given by the patient or his/her guardian. EXCLUSION CRITERIA Patients with a known or suspected leukodystrophy will be excluded from this study. Patients who are unable to come to the NIH. When no informed consent was given. If on the opinion of the investigator, participation in this protocol will be to the detriment of the patient.

Study Location
Maryland