Menkes disease. A clinical case of a rare disorder of copper metabolism caused by a mutation in the ATP7A gene
https://doi.org/10.25789/YMJ.2021.75.30
Abstract
The article presents the features of diagnostics and dynamic monitoring of a patient with Menkes disease, a rare disorder of copper metabolism caused by a mutation in the ATP7A gene. The data of scientific literature on the epidemiology, etiology, pathogenesis of this disease are analyzed, and the basic principles of therapy and the outcomes of the disease are considered.
About the Authors
G. O. Momot
SBIH Regional Budget Clinical Hospital No. 2;
Pacific State Medical University of the Ministry of Health of Russian Federation
Russian Federation
Russian Federation
Momot G.O. – Neurologist
Vladivostok;
graduate student of the Institute of Pediatrics
A. A. Shalygina
SBIH Regional Budget Clinical Hospital No. 2
Russian Federation
Russian Federation
Shalygina A.A. - Head of the palliative department
Vladivostok
E. V. Krukovich
Pacific State Medical University of the Ministry of Health of Russian Federation
Russian Federation
Russian Federation
Krukovich E.V. - Doctor of Medical Sciences, Professor of the Institute of Pediatrics
I. S. Zelenkova
SBIH SBIH Regional Budget Clinical Hospital No. 2
Russian Federation
Russian Federation
Zelenkova I.S. - chief physician
Vladivostok;
chief specialist in palliative aid in the Primorsky Krai
References
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Review
For citations:
Momot G.O., Shalygina A.A., Krukovich E.V., Zelenkova I.S. Menkes disease. A clinical case of a rare disorder of copper metabolism caused by a mutation in the ATP7A gene. Yakut Medical Journal. 2021;(3):116-118. https://doi.org/10.25789/YMJ.2021.75.30
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