Diagnosis of this disorder depends on blood tests demonstrating the absence of serum ceruloplasmin, combined with low serum copper concentration, low serum iron concentration, high serum ferritin concentration, or increased hepatic iron concentration. MRI scans can also confirm a diagnosis; abnormal low intensities can indicate iron accumulation in the brain.
Aceruloplasminemia
Hereditary haemochromatosis
Neuroferritinopathy
Sandhoff disease
Familial encephalopathy with neuroserpin inclusion bodies
Hypoplasminogenemia
Paracelsianism
Huntington's disease-like syndrome