Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up / 浙江大学学报·医学版

ABSTRACT

<p><b>OBJECTIVE</b>To screen fatty acid oxidation disorders (FAOD) in newborns in Zhejiang province.</p><p><b>METHODS</b>A total of 1 861 262 newborns were screened for FAOD in Neonatal Screening Center of Zhejiang Province during January 2009 and December 2016. The blood samples from newborns were screened by tandem mass spectrometry, and diagnosis of FAOD was confirmed by urine organic acid measurement combined with genetic analysis. The prognosis and follow-up of patients with FAOD were also evaluated.</p><p><b>RESULTS</b>Of 1 861 262 newborns screened, 121 cases of FAOD were diagnosed. Among 121 cases of FAOD, primary carnitine deficiency (PCD) was the most common type (=78, 64.5%), which was followed by short-chain acyl-CoA dehydrogenase deficiency (SCADD,=27, 22.3%), medium-chain acyl-CoA dehydrogenase deficiency (=5, 4.1%), multiple acyl-CoA dehydrogenase deficiency (MADD,=4, 3.3%), very long-chain acyl-CoA dehydrogenase deficiency (=3, 2.5%), carnitine palmitoyltransferase Ⅰ deficiency(=2, 1.7%)and carnitine palmitoyltransferase Ⅱ deficiency (CPTⅡD,=2, 1.7%). During 2-82 month follow-up, 15 patients were lost, 4 were dead (1 PCD, 1 MADD, and 2 CPTⅡD), and the remaining 102 subjects had normal intelligence and physical development without any clinical symptoms.</p><p><b>CONCLUSIONS</b>PCD and SCADD are the most common FAODs in newborns in Zhejiang province. Most of FAOD patients are asymptomatic, and have normal growth and development after early intervention and management.</p>