Recognization and management of metabolic crises caused by inborn errors of metabolism in emergency department
10.3760/cma.j.issn.1673-4912.2014.06.003
- VernacularTitle:先天性代谢病代谢危象的急诊识别与处理
- Author:
Hengmiao GAO
- Publication Type:Journal Article
- Keywords:
Metabolic crisis;
Inborn errors of metabolism;
Diagnosis;
Treatment
- From:
Chinese Pediatric Emergency Medicine
2014;21(6):346-350
- CountryChina
- Language:Chinese
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Abstract:
Metabolic crises caused by inborn errors of metabolism are not rare.Its clinical manifestations are non-specific.Clinicians generally have a tendency to pursue this possibility only after other more common conditions have been excluded.If prompt treatment is not initiated early,the patients may deteriorated rapidly,even death may occurs over hours to days.The survivors may have severe sequelae.Diagnosis of metabolic crisis caused by inborn errors of metabolism does not require extensive knowledge of biochemical metabolic pathways or individual metabolic diseases.It is most important to have an intimate knowledge of the major manifestations and initial laboratory tests features that may suggest the diagnosis clues.An early diagnosis and institution of appropriate therapy is often life saving and can prevent permanent neurologic sequelae.
