A) Transmembrane organization of the human ATP7A protein. This schematic representation is based on structural studies of ATP7A . ATP7A contains five regions: i) an N-terminal tail with six metal-binding sites (MBS 1–6), ii) eight trans-membrane segments (TMS), iii) an ATP-binding domain that contains a nucleotide-binding motif (N-domain) and a phosphorylation motif (P-domain, DKTGT1048), iv) an A-domain and v) a C-terminal tail. B) Presence of ATP7A gene mutation (c.3288 C > T), and copper, ceruloplasmin and β-2 microglobulin levels in the patient and in members of his family. The patient’s serum levels of copper and ceruloplasmin were measured while he was receiving Cu-His (100 μg/kg/day). The urine level of β-2 microglobulin was determined 6.5 years after the administration of Cu-His (normal range, 30–370 μg/24 h).
León-García et al. BMC Pediatrics 2012 12:150 doi:10.1186/1471-2431-12-150