Urgencias metabólicas y genéticas en la Unidad de Recién Nacidos: enfermedad de la orina con olor a jarabe de arce / Genetic and metabolic urgencies in the neonatal intensive care unit: maple syrup urine disease
Nutr. hosp
; 32(1): 420-425, jul. 2015. tab, ilus
Article
in Spanish
| IBECS
| ID: ibc-141388
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
La enfermedad de la orina con olor a jarabe de arce (EOJA) es un trastorno hereditario del metabolismo de aminoácidos ramificados causada por mutaciones en el complejo mitocondrial Deshidrogenasa de Cetoácidos de Cadena Ramificada (BCKDH). La disfunción de este complejo genera la acumulación tóxica de aminoácidos de cadena ramificada (BCAA), lo que conlleva un especial impacto en el sistema nervioso central. La acumulación de sustratos provoca encefalopatía aguda neonatal severa, rápidamente progresiva y catastrófica si no se instaura a tiempo el tratamiento. Esta entidad tiene un manejo médico específico en fase aguda y un tratamiento a largo plazo para evitar secuelas y mortalidad. De ahí la importancia de tenerla en cuenta como diagnóstico diferencial. Se presenta a continuación un caso colombiano de un paciente con EOJA de presentación clásica neonatal con desenlace fatal, como ejemplo de urgencia metabólica y diagnóstico diferencial en un neonato encefalopático (AU)
ABSTRACT
Maple syrup urine disease (MSUD) is a hereditary disorder of branched chain amino/keto acid metabolism, caused by a decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex (BCKAD), which leads to abnormal elevated plasma concentrations of branched-chain amino acids (BCAAs) clinically manifested as a heavy burden for Central Nervous system. The toxic accumulation of substrates promotes the development of a severe and rapidly progressive neonatal encephalopathy if treatment is not immediately given. This disorder has a specific medical management in acute phase in order to minimize mortality and morbidity. For all those reasons, it is important to include the MSUD as a possible diagnosis in a encephalopathic newborn. We present a colombian newborn with classical MSUD with fatal outcome as an example of metabolic emergency and a differential diagnosis in the encephalopathic newborn (AU)
Full text:
Available
Collection:
National databases
/
Spain
Health context:
Sustainable Health Agenda for the Americas
/
SDG3 - Health and Well-Being
/
SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases
/
SDG3 - Target 3.2 Reduce avoidable death in newborns and children under 5
Health problem:
Goal 8: Outbreaks, emergencies and disasters
/
Target 3.2: Reduce avoidable death in newborns and children under 5
/
Endocrine System Diseases
/
Neonatal Healthcare
Database:
IBECS
Main subject:
Amino Acid Metabolism, Inborn Errors
/
Maple Syrup Urine Disease
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
Spanish
Journal:
Nutr. hosp
Year:
2015
Document type:
Article
Institution/Affiliation country:
Universidad el Bosque/Colombia