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 |
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 |
Country (study time) | Number of classic organic acidurias diagnosed | MMA n (%) | PA n (%) | IVA n (%) |
---|---|---|---|---|
Germany (18 years) [ | 83 | 34 (41) | 33 (40) | 16 (19) |
China (5 years) [ | 77 | 58 (75) | 13 (17) | 6 (8) |
France (20 years) [ | 66 | 31 (47) | 21 (32) | 14 (21) |
Malaysia (6 years) [ | 62 | 41 (66) | 8 (13) | 13 (21) |
Syria (5 years) [ | 60 | 40 (66) | 16 (27) | 4 (7) |
Brazil (15 years) [ | 59 | 34 (58) | 18 (31) | 7 (12) |
Japan (8 years) [ | 47 | 34 (72) | 12 (26) | 1 (2) |
Egypt (5 years) [ | 42 | 23 (55) | 11 (26) | 8 (19) |
Singapore (13 years) [ | 15 | 7 (47) | 8 (53) | 0 |
Lebanon (12 years) [ | 11 | 5 (46) | 2 (18) | 4 (36) |
Thailand (3 years) [ | 8 | 3 (38) | 2 (25) | 3 (38) |
North-eastern Thailand (5 years; | 12 | 3 (25) | 4 (33) | 5 (42) |
present study) |