Caso clínico: abordaje nutricional precoz en un caso de aciduria glutárica tipo I. Suárez González M1, Díaz Martín JJ1, Bousoño García C1, Jiménez Treviño S1, Suárez Rodríguez M2, Blanco Lago R3. 1Unidad de Gastroenterología y Nutrición Pediátrica, 2Unidad de Neonatología, 3Unidad de Neurología Pediátrica....
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https://pubmed.ncbi.nlm.nih.gov/33585064/ Abstract An 8-month-old male infant patient was referred to our institution (from elsewhere) with a history of fever, convulsions, dystonic posturing, altered sensorium, and loss of motor and mental milestones since past 1 month. Upon admission to our institution, a neuroimaging (magnetic resonance imaging of the...
Case Reports 1987 Oct;37(10):1654-7. doi: 10.1212/wnl.37.10.1654. Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features N Amir 1, O el-Peleg, R S Shalev, E Christensen DOI: 10.1212/wnl.37.10.1654 Abstract We present four patients, two pairs of siblings, with glutaric aciduria type I (GA I). All four had undetectable glutaryl-CoA dehydrogenase activity on fibroblast culture and massive urinary...