Figure 1
Clinical and laboratory findings of classical organic acidurias
| Total n = 12 | Neonatal onset (<1 month) n = 10 | Late onset (>1 month) n = 2 | |
|---|---|---|---|
| Clinical findings | |||
| Alteration of consciousness | 10 | 10 | – |
| Poor feeding | 6 | 6 | – |
| Respiratory distress | 6 | 5 | 1 |
| Abnormal odor | 5 | 5 | – |
| Shock | 5 | 5 | – |
| Hypotonia | 4 | 4 | – |
| Seizure | 4 | 4 | – |
| Family history | 4 | 3 | 1 |
| Hepatomegaly | 3 | 2 | 1 |
| Recurrent vomiting | 2 | 2 | – |
| Developmental delay | 2 | 1Patient had neonatal onset, but was diagnosed beyond the neonatal period. | 1 |
| Failure to thrive | 2 | – | 2 |
| Recurrent infection | 2 | – | 2 |
| Laboratory findings | |||
| Metabolic acidosis with elevated anion gap (>16 mEq/L) | 12 | 10 | 2 |
| Hyperammonemia | |||
| Neonate >150 μμmol/L | |||
| After neonatal period >100 μμmol/L | 9 | 7 | 2 |
| Hypocalcemia (<8 mg/dL) | 6 | 6 | 0 |
| Lactic acidosis (>19 mg/dL) | 5 | 4 | 1 |
| Anemia (neonate; hemoglobin (Hb) <14.5 g/dL) (after 6 months; | |||
| Hb <11 g/dL) | 9 | 8Two patients had pancytopenia | 1 |
| Neutropenia (ANC <1000 cell/mm3) | 6 | 5Two patients had pancytopenia | 1 |
| Thrombocytopenia (platelet <100,000 cell/mm3) | 3 | 2Two patients had pancytopenia | 1 |
| Ketonuria | 1 | 1 | 0 |
Clinical data of 12 patients with classical organic acidurias
| No | Diagnosis | Sex | Parental consanguinity | Birth weight (grams) | Age of onset | Age at diagnosis | MS/MS | Age at last follow-up (months) | Metabolic crisis after diagnosis | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | IVA | f | – | 2640 | 4 d | 8 d | NA | 19 d | 0 | Death |
| 2 | IVA | f | – | 2480 | 9 d | 23 d | NA | 2 y 8 mo | 0 | Normal |
| 3 | IVA | f | – | 2960 | 13 d | 19 d | NA | 1 y 1 mo | 0 | Normal |
| 4 | IVA | m | – | 2795 | 2 d | 19 d | + | 1 y 2 mo | 0 | Normal |
| 5 | IVA | m | – | 3120 | 5 d | 22 d | NA | 4 y 2 mo | 0 | Normal |
| 6 | MMA | f | – | 2780 | 2 d | 2 mo 29 d | + | 1 y | 4 | DD |
| 7 | MMA | m | – | 2700 | 6 d | 9 d | NA | 11 d | 0 | Death |
| 8 | MMA | m | – | 2530 | 9 mo | 1 y 9 mo | NA | 2 y 11 mo | 1 | DD |
| 9 | PA | f | + | 3288 | 3 d | 5 d | + | 8 mo | 4 | DD |
| 10 | PA | f | – | 3140 | 3 d | 8 d | NA | 3 mo | 3 | Death |
| 11 | PA | m | + | 3000 | 2 d | 3 d | NA | 8 d | 0 | Death |
| 12 | PA | m | – | 2800 2 | mo 17 d | 7 mo 2 d | NA | 1 y 3 mo | 3 | DD |
Frequency of classic organic acidurias in high-risk patients among different populations
| Country (study time) | Number of classic organic acidurias diagnosed | MMA n (%) | PA n (%) | IVA n (%) |
|---|---|---|---|---|
| Germany (18 years) [2] | 83 | 34 (41) | 33 (40) | 16 (19) |
| China (5 years) [3] | 77 | 58 (75) | 13 (17) | 6 (8) |
| France (20 years) [4] | 66 | 31 (47) | 21 (32) | 14 (21) |
| Malaysia (6 years) [5] | 62 | 41 (66) | 8 (13) | 13 (21) |
| Syria (5 years) [6] | 60 | 40 (66) | 16 (27) | 4 (7) |
| Brazil (15 years) [7] | 59 | 34 (58) | 18 (31) | 7 (12) |
| Japan (8 years) [8] | 47 | 34 (72) | 12 (26) | 1 (2) |
| Egypt (5 years) [9] | 42 | 23 (55) | 11 (26) | 8 (19) |
| Singapore (13 years) [10] | 15 | 7 (47) | 8 (53) | 0 |
| Lebanon (12 years) [11] | 11 | 5 (46) | 2 (18) | 4 (36) |
| Thailand (3 years) [12] | 8 | 3 (38) | 2 (25) | 3 (38) |
| North-eastern Thailand (5 years; | 12 | 3 (25) | 4 (33) | 5 (42) |
| present study) |