METHYLMALONIC ACIDEMIA IN SIBLINGS
https://doi.org/10.24884/1561-6274-2013-17-3-93-98
Abstract
This article describes clinical manifestations of methylmalonic acidemia (MMA) with tubulointerstitial nephritis in two siblings from the same family. Typical signs are: an aversion to the protein (nausea at the smell of boiling meat), recurrent attacks of headache, anorexia, vomiting, visual and auditory hallucinations, convulsions, hyperammonemia, increase of methylmalonic acid in urine. Discussed therapy and outcome.
About the Authors
J. G. Leviashvili
Санкт-Петербургский государственный педиатрический медицинский университет
Russian Federation
Russian Federation
N. D. Savenkova
Санкт-Петербургский государственный педиатрический медицинский университет
Russian Federation
Russian Federation
M. M. Smirnova
Санкт-Петербургский государственный педиатрический медицинский университет
Russian Federation
Russian Federation
A. R. Syrzova
Санкт-Петербургский государственный педиатрический медицинский университет
Russian Federation
Russian Federation
T. V. Karpova
Санкт-Петербургский государственный педиатрический медицинский университет
Russian Federation
Russian Federation
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Review
For citations:
Leviashvili J.G., Savenkova N.D., Smirnova M.M., Syrzova A.R., Karpova T.V. METHYLMALONIC ACIDEMIA IN SIBLINGS. Nephrology (Saint-Petersburg). 2013;17(3):93-98. (In Russ.) https://doi.org/10.24884/1561-6274-2013-17-3-93-98
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