A 37-year-old Menkes disease patient: Residual ATP7A activity and early copper administration as key factors in beneficial treatment

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 - 2017/11

Y1 - 2017/11

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

SN - 0009-9163

VL - 92

SP - 548

EP - 553

JO - Clinical Genetics

JF - Clinical Genetics

IS - 5

ER -