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Manejo anestésico y perioperatorio en paciente pediátrico con hiperglicinemia no cetósica / Anesthetic and perioperative management in children with non-ketotic hyperglycinemiawith non-ketotic hyperglycinemia
Baquero, Pedro José; Guerrero, Christian David; Pulgarín, Jorge Iván; Osorio, Carolina.
  • Baquero, Pedro José; Universidad Tecnológica de Pereira. Perira. CO
  • Guerrero, Christian David; Universidad Tecnológica de Pereira. Bogotá. CO
  • Pulgarín, Jorge Iván; Hospital Universitario San Jorge. Pereira. CO
  • Osorio, Carolina; Hospital Universitario San Jorge. Pereira. CO
repert. med. cir ; 31(1): 84-88, 2022. ilus.
Article in English, Spanish | LILACS, COLNAL | ID: biblio-1367081
RESUMEN
Presentación del caso se reporta un paciente pediátrico con diagnóstico de hiperglicinemia no cetósica (HNC), enfermedad neurometabólica poco frecuente ocasionada por una deficiencia en el sistema de segmentación de la glicina, codificada por los genes GLDC, GCSH, AMT y GCSL que conduce a niveles elevados de glicina en la sinapsis generando un efecto agonista prolongado en los receptores N-metil-D-aspartato (NMDA). Discusión y

conclusiones:

se asocia con hipotonía, convulsiones y trastornos de la deglución, los cuales dependerán de la edad de presentación. Se revisa la literatura actual para el abordaje perioperatorio.
ABSTRACT
Case presentation we report a child with a diagnosis of non-ketotic hyperglycinemia (NKGH), a rare neurometabolic disease caused by a defect in the glycine cleavage system, encoded by the GLDC, GCSH, AMT and GCSL genes resulting in elevated synaptic glycine levels generating a prolonged agonist effect on N-methyl-D-aspartate (NMDA) receptors. Discussion and

conclusions:

it is associated with hypotonia, seizures and swallowing disorders, which will depend on the age at presentation. A literature review was conducted to tailor perioperative approach.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Hyperglycinemia, Nonketotic / Propionic Acidemia / Perioperative Period Limits: Humans / Infant / Male Language: English / Spanish Journal: Repert. med. cir Journal subject: Cirurgia Geral / Medicina Year: 2022 Type: Article Affiliation country: Colombia Institution/Affiliation country: Hospital Universitario San Jorge/CO / Universidad Tecnológica de Pereira/CO

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Full text: Available Index: LILACS (Americas) Main subject: Hyperglycinemia, Nonketotic / Propionic Acidemia / Perioperative Period Limits: Humans / Infant / Male Language: English / Spanish Journal: Repert. med. cir Journal subject: Cirurgia Geral / Medicina Year: 2022 Type: Article Affiliation country: Colombia Institution/Affiliation country: Hospital Universitario San Jorge/CO / Universidad Tecnológica de Pereira/CO