Lecture 11: Diseases of Metabolism

Diseases/Disorders of Metabolism

• Inherited Metabolic Disorders:

1. Defined primary genetic cause

2. Genetic material either inherited or appeared de novo

3. Most are inborn (present at time of birth)

• Any condition in which primary alteration of a biochemical pathway is intrinsic to specific biochemical, clinical, and/or pathophysiological features

• Approximately 1450 known currently

International Classification of Inherited Metabolic Disorders

Metabolic Relationships Among the Major Human Organs

Adult Diagnosis of Metabolic Disease

"Diagnosis of IMDs in adults is complex because the symptoms may be similar to other diseases. A clinical investigation of 27,702 patients revealed that the utilization of ES/GS made it possible to diagnose 11% of adults with neurological disorders of unknown etiology. Neurological signs are seen in most adults with IMDs, and the average time to a diagnosis after symptom onset is about 15 years."