[Early diagnosis of congenital metabolic diseases].
Diseases of metabolism may lead to irreversible organ damage before a typical pattern of clinical symptoms leads to diagnosis. Because of the possibility of treatment there is an urgent need for an early diagnosis to prevent any damage. Successful screening procedures, like the "Guthrie test" for phenylketonuria and TSH-screening for hypothyroidism are presented. Screening for Duchenne's progressive muscle dystrophy and for cystic fibrosis is discussed and evaluated. Attention is drawn to a screening for familial hypercholesterolemia, which might be important in the future.
D003550:Cystic Fibrosis / Q000175:diagnosis; D006801:Humans; D006937:Hypercholesterolemia / Q000175:diagnosis; D007037:Hypothyroidism / Q000175:diagnosis; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009136:Muscular Dystrophies / Q000175:diagnosis; D010661:Phenylketonurias / Q000175:diagnosis
Früherkennung angeborener Stoffwechselerkrankungen.