[Guidelines for detection of inborn errors of metabolism based on clinical exam, analytical studies and neuroimaging techniques].
Neurometabolic disorders constitute an expanding and complex field in which it is difficult to diagnose and to acquire a specific education and training. This article tries to develop a practical orientation in the suspicion, clinical exam, biochemical studies and neuroimaging techniques for the detection of inborn errors of metabolism. It is very important for the neuropediatrician to suspect metabolic diseases depending on some of the most frequent unexplained neurological disturbances and symptoms as psychomotor delay, mental retardation, refractory epilepsy, dystonia, metabolic crisis or other extraneurological signs. It is important the diagnosis related to the new emergent therapeutic options, genetic counseling and prenatal diagnosis.
Servicio de Neuropediatría, Hospital Universitario Sant Joan de Deu, Barcelona, España. E-mail: campistol@hsjdbcn.es.
Jaume
J
Campistol
D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000503:physiopathology; D015997:Neonatal Screening; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000503:physiopathology; D059906:Neuroimaging / Q000379:methods
biochemical; neuroimaging; neurological signs; neurometabolic diseases; treatment