Abstract OBJECTIVE: To study the clinical features of organic acidemia in neonates admitted to the intensive care unit. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
XU Fa-Lin,FAN Tian,DUAN Jia-Jia et al. Clinical analysis of organic acidemia in neonates from neonatal intensive care units[J]. 中国当代儿科杂志, 2012, 14(5): 336-339.
XU Fa-Lin,FAN Tian,DUAN Jia-Jia et al. Clinical analysis of organic acidemia in neonates from neonatal intensive care units[J]. CJCP, 2012, 14(5): 336-339.
［1］Prust MJ, Gropman AL, Hauser N. New frontiers in neuroimaging applications to inborn errors of metabolism［J］. Mol Genet Metab, 2011, 104(3): 195-205.
［5］Song YZ, Li BX, Hao H, Xin RL, Zhang T, Zhang CH, et al. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China ［J］. Clin Biochem, 2008, 41 (7-8): 616-620.
［7］Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, et al. Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report［J］. Clin Chim Acta, 2005, 354(1-2): 167-180.
［8］Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, et al. Research challenges in central nervous system manifestations of inborn errors of metabolism［J］. Mol Genet Metab, 2011, 102(3): 326-338.
［9］Campeau PM, Scriver CR, Mitchell JJ. A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism［J］. Mol Genet Metab, 2008, 95 (9): 11-16.
［10］Joshi SN, Venugopalan P. Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman［J］. Brain Dev, 2007, 29(9): 543-546.
［11］Tu WJ. Methylmalonic Acidemia in Mainland China［J］. Ann Nutr Metab, 2011, 58(4): 281.
［12］Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, Macleod E.Neurologic considerations in propionic acidemia［J］. Mol Genet Metab, 2012, 105(1): 10-15.
［13］Eyaid WM, Al-Nouri DM, Rashed MS, Al-Rifai MT, Al-Wakeel AS. An inborn error of metabolism presenting as hypoxic-ischemic insult ［J］. Pediatr Neurol, 2005, 32(2): 134-136.
［14］Ibarra-González I, FernándezLainez C, Vela-Amieva M.Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country［J］. Clin Biochem, 2010, 43(4-5): 461-466.
