Pathogenesis

X-linked recessive trait with gene locus in band Xqi3.3; defect in intestinal copper transport with associated low serum copper and ceruloplasmin levels, resulting in a deficiency in copper-dependent enzyme activity; copper-dependent metalloen-zymes relevant to the clinical phenotype: tyrosinase (pigmentation of skin and hair), lysyl oxidase (elastin and collagen cross-linking), ascorbate oxidase (skeletal development), monoamine oxidase (possibly responsible for pili torti), superoxide dis-mutase (free-radical detoxification), dopamine beta-hydroxylase (catecho-lamine production), peptidyl-glycine alpha-amidating mono-oxygenase (bioactivation of peptide hormones), and cytochrome c oxidase (electron transport and possibly responsible for hypothermia)

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