Organic aciduria | ||
Propionic aciduria | 1 | |
Methylmalonic aciduria | 3 | |
Maple syrup urine disease | ||
Urea cycle disorders | ||
Citrullinaemia type 1 |
2 | |
Ornithine transcarbamylase deficiency (OTC) | 1 | |
Galactosemia | ||
- Classic | 2 | |
- Epimerase deficiency | 1 | |
Nonketotic hyperglycinemia | ||
Asparagine synthetase deficiency | ||
Carnitinepalmitoyltransferase 1 deficiency (CPT1) | ||
Carnitine-acylcarnitine translocase deficiency (CACT) | ||
Multiple oxidative phosphorylation defect (complexes IV-V-II+IV) | ||
Combined oxidative phosphorylation defect type 13 |
Age at PICU admission, median (IQR), days | 7.5 (3.25–9) |
Female gender n (%) | 13 (65) |
Gestational age, median (IQR), weeks | 38.5 (36–39) |
Birth weight, mean (SD), grams | 2831.3 (523.1) |
Neonatal resuscitation n (%) | 1 (5) |
Pregnancy complications n (%) | 6 (30) |
Family history of IMD n (%) | 4 (20) |
Age at onset of symptoms, median (IQR), days | 5 (1–7) |
Symptom-free interval n (%) | 16 (80) |
Length of the symptom-free interval, median (OQR), days | 5 (1–7) |
15 (93.8) | 1 (25) | ||
5.5 (0–7.8) | 3 (0–6.8) | 0.3 |
|
14 (87.5) | 3 (75) | 0.5 |
|
10 (62.5) | 2 (50) | 0.2 |
|
6 (37.5) | 2 (50) | 1 |
|
3 (18.8) | 0 | 1 |
|
2 (12.5) | 2 (50) | 0.2 |
|
3 (18.8) | 2 (50) | 0.4 |
|
4 (25) | 1 (25) | 0.7 |
Altered plasma aminoacids, n (%) | 12 (75) | 1 (25) | 0.2 |
CK elevation, n (%) | 11 (68.8) | 2 (50) | 0.6 |
Hyperlactatemia, n (%) | 8 (50) | 4 (100) | 0.4 |
Glomerular renal dysfunction, n (%) | 8 (50) | 3 (75) | 0.6 |
Metabolic acidosis with increased anion gap, n (%) | 7 (43.8) | 1 (25) | 0.5 |
Organic aciduria, n (%) | 7 (43.8) | 3 (75) | 0.2 |
Abnormal urine aminoacids, n (%) | 7 (43.8) | 0 | 0.08 |
Hyperammonemia, n (%) | 6 (37.5) | 1 (25) | 1 |
DNPH urine test - positive, n (%) | 6 (37.5) | 0 | 0.2 |
Hypoglycemia, n (%) | 6 (37.5) | 2 (50) | 0.4 |
Thrombocytopenia, n (%) | 5 | 0 | 0.2 |
Leukopenia, n (%) | 0 | 1 | 0.2 |