A U wave as seen on ECG. An electrocardiogram of an 18-year-old man showing U waves, most evident in lead V3. The U wave is a wave on an electrocardiogram that is not always seen. It is typically small, and, by definition, follows the T wave. U waves are thought to represent repolarization of the papillary muscles or Purkinje fibers.
HCP is caused by mutations in the CPOX gene, which codes for the enzyme coproporphyrinogen oxidase. This enzyme is responsible for the sixth step in the heme biosynthetic pathway, converting coproporphyrinogen III to protoporphyrinogen IX.
Most porphyrias are inherited disorders, meaning they are caused by abnormalities in genes passed from parents to children. Scientists have identified the genes for all eight enzymes in the heme pathway. Some forms of porphyria result from inheriting an abnormal gene from one parent. Other forms are due to inheriting two abnormal genes-one from each parent. The risk that members of an affected family will have the disease or transmit it to their children depends on the type of porphyria. One type of porphyria -- porphyria cutanea tarda -- is most often an acquired disorder.