Enfermedad de orina con olor a jarabe de arce: enfrentamiento de un caso / Maple syrup urine disease: case management
Bol. Hosp. San Juan de Dios
;
51(4): 198-200, jul.-ago. 2004. ilus, tab
Article
Dans Espagnol
| LILACS
| ID: lil-390530
ABSTRACT
Maple syrup urine disease (MSUD) is an amino acidopathy secondary to a catabolic defect of branched amino acids (aa) valine, isoleucine and leucine (VIL). The accumulation of these elements and their keto acids in body fluids leads to encephalopathy and progressive neurological degeneration in untreated children (2-4-5-6)). The case of a newborn is analysed presenting with a classic form of this disease, its clinical evolution with metabolic and neurological involvement, diagnosis and intrahospital care till discharge.
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Indice:
LILAS (Amériques)
Sujet Principal:
Leucinose
Limites du sujet:
Femelle
/
Humains
/
Nouveau-né
langue:
Espagnol
Texte intégral:
Bol. Hosp. San Juan de Dios
Thème du journal:
Médicament
Année:
2004
Type:
Article
Pays d'affiliation:
Chili
Institution/Pays d'affiliation:
Universidad de Chile/CL
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