Treatable Intellectual Disability

Aceruloplasminemia

BIOCHEMICAL DEFICIENCY

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DIAGNOSIS

Gene
CP (AR)

Diagnostic Test
Serum Ceruloplasmin, Copper, Iron, Ferritin

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SIGNS & SYMPTOMS

Neurological
Dementia, dystonia, basal ganglia lesions (MRIscan)

Non-Neurological
Retinitis pigmentosa, diabetes mellitus type I

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THERAPY

Treatment
Iron Chelation

Level of Evidence
4

Clinical Practice
Standard of Care

Treatment Effect
Stabilizes clinical deterioration;
improves neurological manifestations



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Aceruloplasminemia

is characterized by iron accumulation in the brain and viscera, affecting 1:100-200,000 persons worldwide. The clinical triad of retinal degeneration, diabetes mellitus (DM), and neurologic disease, usually at adult age but cases during childhood and adolescence have been described. The neurologic findings of movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and ataxia (gait ataxia, dysarthria) correspond to regions of iron deposition in the brain.

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