Conditions / Genetic
McLeod syndrome
info · Genetic
A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Acanthocytosis
- Chorea
- Increased circulating lactate dehydrogenase concentration
- Absent Achilles reflex
- Myopathy
- Decreased circulating haptoglobin concentration
- Dysarthria
- Muscle weakness
- Seizure
Also known as: MLS; McLeod neuroacanthocytosis syndrome; McLeod syndrome with or without chronic granulomatous disease; McLeod type neuroacanthocytosis; X-linked McLeod syndrome