Menkes disease

Clinical utility gene card for: Menkes disease

“…10 However, in the neonatal period these markers should be interpreted with caution, as their levels are low in healthy newborns also. 10 In this period, plasma catecholamine analysis (ratio of DOPA to dihydroxyphenylglycol) indicative of dopamine b-hydroxylase deficiency may be used as a rapid diagnostic test, but this test does not provide definitive evidence for MD. 10 A biochemical test for MD exists and is based on intracellular accumulation of copper due to impaired efflux.…”

“…10 In this period, plasma catecholamine analysis (ratio of DOPA to dihydroxyphenylglycol) indicative of dopamine b-hydroxylase deficiency may be used as a rapid diagnostic test, but this test does not provide definitive evidence for MD. 10 A biochemical test for MD exists and is based on intracellular accumulation of copper due to impaired efflux. Accumulation is evaluated in cultured cells, mainly fibroblasts, by measuring radioactive copper ( 64 Cu) retention after a 20-h pulse, and impaired efflux is directly determined after a 24-h pulse-chase period.…”

“…10 This test is Copper accumulation test in cultured fibroblasts is a method that requires expertise and is also carried out in a few centres. 10 This test requires a skin biopsy from the patient and may be a burden.…”

“…However, in general, patients with a milder phenotype (such as OHS) have a higher proportion of mutations, which lead to a partially functional protein or result in reduced amounts of an otherwise normal protein. 10 Recently, missense ATP7A mutations have been reported in two families with late-onset X-linked hereditary distal motor neuropathy without signs of copper deficiency. 11…”

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

“…Early treatment can modify disease progression and life expectancy. 1,2 We describe a case of familial MD. Informed consent was obtained for publication.…”