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Table 4 Abnormal MS/MS results of organic acidemias

From: Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

Organic acidemias (n = 26) n (%) Age at Diagnosis (day) Abnormal parameter Concentration mean (range)(μmol/l) Reference range (μmol/l) Mutated gene
Methylmalonic academia (MMA) 16 (61.6) 13-121 C3 7.50 (4.27-18.94) 0.28-4.3 MMACHC, MUT
C3/C2 0.90 (0.24-1.85) 0.02-0.17
Ethylmalonic encephalopathy (EE) 4 (15.4) 30-47 C4 1.47 (1.22-1.64) 0.07-0.45 ACADS
C4/C3 1.59 (1.47-1.77) 0.04-0.4
3-methylcrotonyl CoA carboxylase deficiency (3-MCC) 5 (19.2) 21-57 C4DC + C5OH 6.36 (0.94-14.94) 0.06-0.4 MCCC1
β-ketothiolase deficiency (BKD) 1 (3.8) 37 C5:1 0.47 0-0.02 ACAT1