PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD
https://doi.org/10.15690/pf.v11i1.895
Abstract
Propionic aciduria is a rare hereditary metabolic disease with autosomal-recessive inheritance mode associated with organic acid metabolic disorder. Early diagnostics is difficult as clinical symptoms caused by metabolic defects are often observed at hypoxicischemic central nervous system lesion, brain malformations and intrauterine infections. Laboratory examination reveals increased concentration of organic acids in blood and urine. The article presents observation of propionic aciduria in a 5-month-old child.
About the Authors
L. D. FominykhRussian Federation
MD, assistant at the department of pediatrics of the Institute of postgraduate education of Kirov State Medical Academy
G. V. Solovyeva
Russian Federation
M. L. Vyaznikova
Russian Federation
N. G. Muratova
Russian Federation
T. E. Serebrenikova
Russian Federation
E. A. Kostyuchek
Russian Federation
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Review
For citations:
Fominykh L.D., Solovyeva G.V., Vyaznikova M.L., Muratova N.G., Serebrenikova T.E., Kostyuchek E.A. PROPIONIC ACIDURIA IN A 5-MONTH-OLD CHILD. Pediatric pharmacology. 2014;11(1):52-54. https://doi.org/10.15690/pf.v11i1.895