Which metabolic condition is characterized by copper accumulation in tissues?

The metabolic condition characterized by copper accumulation in tissues is Menkes disease. This condition is a genetic disorder caused by mutations in the ATP7A gene, which is responsible for copper transport in the body. Due to the malfunction of this gene, individuals with Menkes disease are unable to properly absorb and distribute copper, leading to its accumulation in certain tissues, particularly the brain and other organs. The copper accumulation has detrimental effects on various bodily systems, particularly in the nervous system, leading to the characteristic symptoms of Menkes disease, such as neurological impairment, developmental delays, and distinctive hair abnormalities.

The other options are associated with different metabolic conditions:

• Ornithine transcarbamylase (OTC) deficiency primarily affects the urea cycle and results in ammonia accumulation, not copper.

• Mucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase enzyme, leading to the accumulation of glycosaminoglycans, not copper.

• Fabry disease is due to the deficiency of the enzyme alpha-galactosidase A, leading to the buildup of globotriaosylceramide, and is not related to copper metabolism.

Understanding