Clinical and genetic analysis of 4 child patients with 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD) identified by neonatal screening

VernacularTitle:新生儿筛查发现4例MCCD患儿的临床和基因分析
Author: Yanyun WANG ; Yun SUN ; Wei CHENG ; Tao JIANG
Keywords: 3-methylcrotonyl-coenzyme A carboxylase deficiency; tandem mass spectrometry; 3-hydroxy-isovaleryl-carnitine; maternal; heterozygote
From: Chinese Journal of Clinical Laboratory Science 2017;35(8):601-604
CountryChina
Language:Chinese
Abstract: Objective To analyze 4 child patients with 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD) identified by neonatal screening and confirmed by urine gas chromatography-mass spectrometry (GC/MS) and genetic analysis.Methods Newborns whose C4DC + CSOH concentration was above 0.6 μmol/L in newborn screening were recalled for rescreening,and the CADC + C5OH concentrations in their mothers were detected.The child patients suspected with MCCD were further confirmed by urine GC/MS and genetic analysis.Results Three child patients were definitely diagnosed as MCCD by genetic analysis,including 1 MCCD,1 maternal MCCD and 1 paternal MCCD.The other 1 child patient suspected with MCCD had only one allele in MCCC1.Conclusion The mother and father of newborns with elevated C4DC + C5OH identified in neonatal screening should routinely perform MS / MS testing.When only one pathogenic locus is found in the suspected MCCD child patients by genetic analysis,they should be followed up regularly.