Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit
, , und | 16. Okt. 2023
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Article Category: Original article
Online veröffentlicht: 16. Okt. 2023
Seitenbereich: 55 - 63
Eingereicht: 05. Feb. 2023
Akzeptiert: 11. Juni 2023
DOI: https://doi.org/10.34763/jmotherandchild.20232701.d-23-00021
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© 2023 Catarina Teixeira et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
IMD diagnosed in hospitalised newborns by pathophysiological group.
| 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 |
Newborns’ demographic and clinical data (n=20).
| 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) |
Comparison of clinical manifestations between the two IMD groups.
| 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 |
Main alterations of diagnostic tests by pathophysiological group of IMD.
| 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 |