Genetic Test
The ATP7A gene encodes a copper-transporting ATPase, which plays a critical role in transporting and regulating copper within and outside cells.
Defects in this gene lead to abnormal copper accumulation or deficiency in cells, reducing the activity of various copper-dependent enzymes.
Affected enzymes include lysyl oxidase (LOX), dopamine β-hydroxylase, and ceruloplasmin, resulting in systemic problems in the nervous system, connective tissue, and blood vessel walls.
Disease Description
Menkes disease caused by mutations in the ATP7A gene is a rare hereditary metabolic disorder affecting copper transport, leading to dysfunction of copper-dependent enzymes.
In dogs, clinical signs include neurological symptoms, growth retardation, abnormal hair (brittle or kinky), and muscle weakness.
In severe cases, neurodegenerative symptoms rapidly worsen within the first few months of life, often leading to death.
