Clinical description of a rare autosomal recessive syndrome in the Yakut children
Abstract
The article describes the clinical signs (symptoms) of a rare storage disease in eleven Yakut infants. All the children were from unrelated families. The disease is very severe, leading to the disability and death at an early age. Diagnostics using the most complicated and advanced biochemical methods hasn’t produced results.
About the Authors
E. E. Gurinova
Медико-генетической консультации РБ №1-НЦМ; ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
N. R. Maksimova
МИ СВФУ им. М.К. Аммосова; ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
A. L. Sukhomyasova
МГК РБ №1– НЦМ; ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
References
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3. Therapeutic tactics correction of metabolic disorders in children with inherited metabolic diseases / Ed. P.V. Novikov. – M.: Publisher «Overlay», 2011. – P. 6-9.
4. Mikhailova S.V. Neurometabolic diseases in children and adolescents. Diagnosis and treatment approaches / S.V. Mikhailova, E.J. Zakharova, A.S. Petruhin // Series «Practical Manual». – M.: Publisher «Litterra», 2012. – P.10, P.153.
Review
For citations:
Gurinova E.E., Maksimova N.R., Sukhomyasova A.L. Clinical description of a rare autosomal recessive syndrome in the Yakut children. Yakut Medical Journal. 2014;(2):12-14.
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