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

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‐histid...

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Bibliographic Details
Published in:Clinical genetics 2017-11, Vol.92 (5), p.548-553
Main Authors: Tümer, Z., Petris, M., Zhu, S., Mercer, J., Bukrinski, J., Bilz, S., Baerlocher, K., Horn, N., Møller, L.B
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
ATP7A
Child, Preschool
Copper
Copper - therapeutic use
copper metabolism
copper treatment
Copper-transporting ATPases - metabolism
copperhistidine
Histidine
Humans
Infant
Infant, Newborn
Male
Menkes disease
Menkes Kinky Hair Syndrome - drug therapy
Menkes Kinky Hair Syndrome - enzymology
Menkes syndrome
Patients
Protein Transport
residual function
Supplements
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13083