Alternative Names & Classifications:
Menkes Syndrome (CLINICAL)
Description
Menkes disease is an X-linked recessive disorder where intestinal cells successfully absorb dietary copper but are genetically incapable of releasing it into the bloodstream, tragically starving the rest of the body of this critical mineral. Because copper is absolutely essential for cross-linking collagen, forming bone, and synthesizing vital central nervous system myelin, structural and neurological development completely collapses. Affected infants suffer from severe, aggressive neurodegeneration, distinctively sparse and kinky hair, and typically do not survive past early childhood.