Analysis on the diagnosis,treatment and gene mutation of neonatal primary carnitine deficiency

SUN Ying-mei; SONG Dong-po; WANG Wei-qing; LI Wen-jie

doi:10.11852/zgetbjzz2018-1589

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Chinese Journal of Child Health Care ›› 2019, Vol. 27 ›› Issue (8) : 820-823. DOI: 10.11852/zgetbjzz2018-1589

Analysis on the diagnosis,treatment and gene mutation of neonatal primary carnitine deficiency

SUN Ying-mei, SONG Dong-po, WANG Wei-qing, LI Wen-jie

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Abstract

Objective To investigate the mutation characteristics of SLC22A5 gene of neonatal primary carnitine deficiency(PCD) in Qingdao area,and to discuss the diagnosis and treatment of PCD.Methods The free carnitine(C0) and acylcarnitine levels in the blood of 278 180 neonates from newborns screening program in Qingdao were measured by tandem mass spectrometry from January 2015 to August 2018.The mutations of carnitine transporter protein were tested in children with low C0 level and the diagnosis was made. Results A total of 5 cases were diagnosed with PCD,with the incidence rate of 0.001 8%(1/55 636).PCD Children were treated with 100-300 mg/(kg·d) of carnitine,and were followed up for 1 month till the blood free carnitine rose to normal.Five child were detected with gene mutations,and one children was homozygous mutation of c.1400C>G(p.S467C)/ c.1400C>G(p.S467C).The compound heterozygous mutations in four cases included c.1400C>G(p.S467C)/c.1433C>T(p.P478L); c.1400C>G(p.S467C)/c.760C>T(p.R254X); c.1400C>G(p.S467C)/c.428C>T(p.P143L); c.1400C>G(p.S467C)/c.393+1G>A (error splicing). Conclusions c.1400C>G(p.S467C) is the major mutation(60%) in SLC22A5 gene of PCD children in Qingdao area.Genetic analysis is helpful for the diagnosis of PCD.And carnitine is effective in the treatment of PCD and will promote better prognosis of PCD children.

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primary carnitine deficiency / tandem mass spectrometry / gene mutation

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SUN Ying-mei, SONG Dong-po, WANG Wei-qing, LI Wen-jie. Analysis on the diagnosis,treatment and gene mutation of neonatal primary carnitine deficiency[J]. Chinese Journal of Child Health Care. 2019, 27(8): 820-823 https://doi.org/10.11852/zgetbjzz2018-1589

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