Screening for amino acid metabolic 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 analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province.</p><p><b>METHODS</b>A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively.</p><p><b>RESULTS</b>One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 111 349, including 83 with hyperphenylalaninaemia (122 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (164 138), 16 with methionine S-adenosyltransferase deficiency (1116 250), 9 with maple syrup urine disease (1206 667), 8 with argininemia (1232 500), 7 with citrullinemia type Ⅰ (1265 700), 6 with hyperprolinemia type Ⅰ (1310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1930 000). In addition, ornithine transcarbamylase deficiency, cystathionine β-synthase deficiency, argininosucoinate aciduria and tyrosinemia type Ⅰ were detected in one patient for each, respectively. Two patients had developmental delay, 7 patients were dead, and 2 cases of maple syrup urine disease were lost to follow-up.</p><p><b>CONCLUSIONS</b>Hyperphenylalaninaemia is the most common amino acid metabolic disease in newborns in Zhejiang province. Patients with amino acid metabolic disorders identified in newborn screening program can have chance for normal growth development by intervention.</p>