Orthopedic Pathology in Children with Mucopolysaccharidosis Type I
Nato D. Vashakmadze, 
Leyla S. Namazova-Baranova,
Anait K. Gevorkian,
Ludmila M. Kuzenkova,
Tatiana V. Podkletnova,
Marina A. Babaykina,
Anatoly B. Anikin,
Galina B. Kuznetsova,
Liliya A. Osipova,
Konstantin V. Jerdev
Leyla S. Namazova-Baranova,
Anait K. Gevorkian,
Ludmila M. Kuzenkova,
Tatiana V. Podkletnova,
Marina A. Babaykina,
Anatoly B. Anikin,
Galina B. Kuznetsova,
Liliya A. Osipova,
Konstantin V. Jerdev https://doi.org/10.15690/vsp.v15i6.1652
Abstract
Mucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. This severe genetic progressive disease can be detected at an early age by skeletal deformities and phenotypic data. Early enzyme replacement therapy and/or bone marrow transplantation can slow down irreversible damages to various organs and systems or reduce their severity and improve the quality of life for a child.
About the Authors
Nato D. Vashakmadze
Scientific Center of Children’s Health
Pirogov Russian National Research Medical University
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
Leyla S. Namazova-Baranova
Scientific Center of Children’s Health
Pirogov Russian National Research Medical University
Sechenov First Moscow State Medical University
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
Anait K. Gevorkian
Scientific Center of Children’s Health
Pirogov Russian National Research Medical University
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
Ludmila M. Kuzenkova
Scientific Center of Children’s Health
Pirogov Russian National Research Medical University
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
Tatiana V. Podkletnova
Scientific Center of Children’s Health
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
Marina A. Babaykina
Scientific Center of Children’s Health
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
Anatoly B. Anikin
Scientific Center of Children’s Health
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
Galina B. Kuznetsova
Scientific Center of Children’s Health
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
Liliya A. Osipova
Scientific Center of Children’s Health
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
Konstantin V. Jerdev
Scientific Center of Children’s Health
Russian Federation
Moscow, Russian Federation
Russian Federation
Moscow, Russian Federation
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Review
For citations:
Vashakmadze N.D., Namazova-Baranova L.S., Gevorkian A.K., Kuzenkova L.M., Podkletnova T.V., Babaykina M.A., Anikin A.B., Kuznetsova G.B., Osipova L.A., Jerdev K.V. Orthopedic Pathology in Children with Mucopolysaccharidosis Type I. Current Pediatrics. 2016;15(6):562-567. (In Russ.) https://doi.org/10.15690/vsp.v15i6.1652
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