What is a common clinical finding in Menkes Disease?

Menkes Disease is a genetic disorder caused by a mutation in the ATP7A gene, which is crucial for proper copper metabolism in the body. One of the hallmarks of Menkes Disease is the presence of sparse, kinky hair. This characteristic often provides a visual cue for diagnosis, as individuals with Menkes typically have hair that appears broken, is very fine, and has a distinctive corkscrew or twisted texture.

The defect in copper transport leads to a deficiency of this essential mineral in various tissues, which affects the normal structure and function of connective tissue. The abnormality in hair structure can be attributed to the roles that copper plays in the formation of keratin, an important protein in hair. Thus, the finding of sparse, kinky hair is not only a common symptom but also a reflection of the underlying biochemical dysfunction associated with Menkes Disease.

Other choices, such as excessive hair growth, hair loss, or normal hair texture, do not accurately represent the typical clinical manifestation of this condition and are less relevant to the diagnosis of Menkes Disease.