Table 4 Abnormal MS/MS results of organic acidemias
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 |