FIGURE 4-3 Incorporation of orally administered ⁶⁴Cu into ceruloplasmin at 24 hr. Means and standard deviations are shown. The y axis shows the ratio of the 24-hr incorporation of radiocopper over the peak incorporation of radiocopper (at 1 or 2 hr). WD/WD, homozygous affected; N/WD, heterozygous; N/N, homozygous normal. Hatched portion = mean ± standard deviation.

Source: Brewer and Yuzbasiyan- Gurkan 1992. Reprinted with permission from Medicine; copyright 1992, Lippincott Williams & Wilkins.

Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by a defect in the gene coding for ceruloplasmin. This disease is rare; a frequency of only 1 per 2,000,000 in cases involving non-consanguineous marriages was reported in Japan (Miyajima et al. 1999). Aceruloplasminemic individuals have no oxidase-detectable or immunoreactive ceruloplasmin in their serum (Miyajima et al. 1987). Late-onset retinal and basal ganglia degeneration, diabetes, and neurological symptoms are commonly seen in clinics. The pathogenesis of the disease has been linked to a slow accumulation of iron in tissues (Yazaki et al. 1998; Gitlin 1998). Biopsy examinations have detected unusually high amounts of iron in the pancreas, heart, kidney, spleen, and thyroid gland (Yoshida et al. 1995), and magnetic resonance imaging of the brain shows an increased iron content of the basal ganglia, thalamus, and dentate nucleus