Every expectant parent hopes to welcome a healthy baby into the world. Unfortunately, high-risk newborns with some genetic diseases appear healthy at birth but then rapidly deteriorate—they become lethargic, stop eating, develop seizures, and may progress to coma. For the physicians charged with their care, it’s a race against time to determine which disorder is causing their fragile patient to decline.
These diseases are often caused by malfunctions of the metabolic processes that the body needs to produce essential nutrients and remove harmful toxins. Many of these disorders also have potentially life-saving treatments—but only if they are diagnosed in time.
