A 37-year-old Menkes disease patient: Residual ATP7A activity and early copper administration as key factors in beneficial treatment
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A 37-year-old Menkes disease patient : Residual ATP7A activity and early copper administration as key factors in beneficial treatment. / Tümer, Z; Petris, M; Zhu, S; Mercer, J; Bukrinski, J; Bilz, S; Baerlocher, K; Horn, N; Møller, L B.
I: Clinical Genetics, Bind 92, Nr. 5, 2017, s. 548-553.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - A 37-year-old Menkes disease patient
T2 - Residual ATP7A activity and early copper administration as key factors in beneficial treatment
AU - Tümer, Z
AU - Petris, M
AU - Zhu, S
AU - Mercer, J
AU - Bukrinski, J
AU - Bilz, S
AU - Baerlocher, K
AU - Horn, N
AU - Møller, L B
N1 - © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
PY - 2017
Y1 - 2017
N2 - Menkes disease (MD) is a lethal disorder characterized by severe neurological symptoms and connective tissue abnormalities; and results from malfunctioning of cuproenzymes, which cannot receive copper due to a defective intracellular copper transporting protein, ATP7A. Early parenteral copper-histidine supplementation may modify disease progression substantially but beneficial effects of long-term treatment have been recorded in only a few patients. Here we report on the eldest surviving MD patient (37 years) receiving early-onset and long-term copper treatment. He has few neurological symptoms without connective tissue disturbances; and a missense ATP7A variant, p.(Pro852Leu), which results in impaired protein trafficking while the copper transport function is spared. These findings suggest that some cuproenzymes maintain their function when sufficient copper is provided to the cells; and underline the importance of early initiated copper treatment, efficiency of which is likely to be dependent on the mutant ATP7A function.
AB - Menkes disease (MD) is a lethal disorder characterized by severe neurological symptoms and connective tissue abnormalities; and results from malfunctioning of cuproenzymes, which cannot receive copper due to a defective intracellular copper transporting protein, ATP7A. Early parenteral copper-histidine supplementation may modify disease progression substantially but beneficial effects of long-term treatment have been recorded in only a few patients. Here we report on the eldest surviving MD patient (37 years) receiving early-onset and long-term copper treatment. He has few neurological symptoms without connective tissue disturbances; and a missense ATP7A variant, p.(Pro852Leu), which results in impaired protein trafficking while the copper transport function is spared. These findings suggest that some cuproenzymes maintain their function when sufficient copper is provided to the cells; and underline the importance of early initiated copper treatment, efficiency of which is likely to be dependent on the mutant ATP7A function.
U2 - 10.1111/cge.13083
DO - 10.1111/cge.13083
M3 - Journal article
C2 - 28657131
VL - 92
SP - 548
EP - 553
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 5
ER -
ID: 196766677