When zebras run with horses – inherited metabolic diseases come mainstream

Excerpt

Training in the specialty of endocrinology and metabolism is dominated by the “endocrinology”. “Metabolism” training occurs primarily a “by-product” of the study of common diseases such as the interplay of carbohydrate and fat metabolism that influences outcomes in patients with diabetes. However, the study of “metabolism” also includes inherited metabolic disorders (IMDs). IMDs were previously considered the “zebras” of medicine, disorders that were extremely rare and usually resulted in death in childhood, so physicians who practiced adult medicine could spend their entire career without ever seeing an affected patient. However, this situation is changing rapidly due to major advances in both treatment (such that patients identified with IMDs are living longer) and diagnosis (with high throughput genetic testing methods leading to an increased number of patients being diagnosed with IMDs at all ages). …