Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy.

Menéndez Suso, Juan José; Del Cerro Marín, María Jesús; Dorao Martínez-Romillo, Paloma; Labrandero de Lera, Carlos; Fernández García-Moya, Luis; Rodríguez González, José Ignacio · J Pediatr · 2012

case_series · Level IV

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Abstract

The association of pulmonary hypertensive vascular disease with nonketotic hyperglycinemia is rare. We describe 5 infants diagnosed with nonketotic hyperglycinemia, in whom pulmonary hypertensive vascular disease was the main presenting feature, and who developed severe pulmonary edema in response to pulmonary vasodilators.

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