[Clinical analysis of organic acidemia in neonates from neonatal intensive care units].

To study the clinical features of organic acidemia in neonates admitted to the intensive care unit.
The clinical features of neonates from 15 neonatal intensive care units of Henan Province, who were diagnosed with congenital organic acidemia by gaschromatography-mass spectrometry (GC-MS) between June 2008 and August 2011 were retrospectively reviewed.
Fifty neonates of 287 high risk neonates were confirmed as having or highly suspected to have inborn errors of metabolism. Of the 50 cases, 32 cases were diagnosed with organic acidemia disease, including 28 cases of methylmalonic acidemia, 2 cases of propionic acidemia, 1 case of maple syrup urine disease and 1 case of isovaleric acldemla. In most cases, disease onset occurred in the first week after birth in most of cases (75%). Neonates whose symptoms occurred immediately after or within a few hours of birth presented with serious conditions. Clinical manifestations were various and mainly related to neurologic, respiratory and gastrointestinal symptoms such as poor response, coma, drowsiness, abnormal muscle tone, convulsions, polypnea, dyspnea, milk refusal, diarrhea and jaundice. Initial symptoms were non-specific and included dyspnea, poor response, milk refusal, lethargy and seizures.
Methylmalonic acidemia is a common inherited metabolic disease in the neonatal period. Clinical manifestations of organic acid metabolism abnormalities in neonates are atypical and early onset is associated with more serious conditions.
AuthorsFa-Lin Xu, Tian Fan, Jia-Jia Duan, Dan Chen
JournalZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics (Zhongguo Dang Dai Er Ke Za Zhi) Vol. 14 Issue 5 Pg. 336-9 (May 2012) ISSN: 1008-8830 [Print] China
PMID22613102 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)
  • Amino Acid Metabolism, Inborn Errors (complications, diagnosis)
  • Diagnosis, Differential
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Infant, Newborn
  • Intensive Care Units, Neonatal
  • Male
  • Maple Syrup Urine Disease (complications, diagnosis)
  • Propionic Acidemia (complications, diagnosis)

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