Fumaric aciduria case
Date
2014
Authors
Kanuka, M.
Yanovska, A.
Grechanina, Juliya
Zdubskaya E.
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Fumaric aciduria refers to a mitochondrial disorder, due to lack of fumarase activity, and manifesting as progressive encephalopathy, hypotension, dyspnea, seizures and lactic acidosis.
Description
Acute deterioration of the child after birth with the development of hypotension, cerebral depression, it is necessary to carry out test to exclude congenital defect of metabolism, including mitochondrial dysfunction.
Keywords
fumaric aciduria, metabolism, mitochondrial dysfunction, hiperammonemia
Citation
Fumaric aciduria case / M. V. Kanuka, A. A. Yanovska, Y. B. Grechanina, E. P. Zdubskaya // Journal of Inherited Metabolic Disease. — 2014. — Vol. 37, suppl. 1 : Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September, 2014 : abstracts. — P. 112.