Carnitine Palmityl Transferase Deficiency

The symptoms of this enzyme deficiency are muscle pain, stiffness, and tenderness brought on by exercise, illness, or menstruation; rust-colored urine(myoglobinuria), and death in infancy for those who completely lack the enzyme. Prolonged intense exercise or fasting can lead to kidney damage, muscle destruction, and intensification of the symptoms listed above. This disease is usually autosomal recessive, resulting from a defective gene contributed by each parent, but it can also occur by means of a defective gene from one parent in addition to a genetic mutation.

There are no listings in this category.
Search for in

submit Category Stats
Listings: 0