Clinical Study
Clinical Spectrum of Propionic Acidaemia
Table 3
Important clinical features and laboratory parameters on initial presentations in
admissions of 26 patients with PA.
| Findings/investigations | (%)/mean (SD) | CI, 95% | value |
| Symptoms | | | | Lethargy | 91 (68.4) | 85.07–96.93 | <0.001 | Fever | 81 (60.9) | 75.72–86.28 | <0.001 | Poor feeding | 68 (51.1) | 63.57–72.43 | <0.001 | Vomiting | 102 (76.7) | 95.35–108.65 | <0.001 | Dyspnoea/cough/others† | 48 (36.1) | 44.87–51.13 | <0.001 | Loss of consciousness | 24 (18) | 22.44–25.56 | 0.002 | Seizures | 17 (12.8) | 15.89–18.11 | 0.028 | Physical findings/diagnosis | | | | Dehydration | 123 (92.4) | 114.99–131.01 | <0.001 | Hypotonia | 81 (61.9) | 75.63–86.37 | <0.001 | Encephalopathy | 6 (4.5) | 5.61–6.39 | 0.437 | Metabolic crisis | 111 (83.4) | 103.77–118.23 | <0.001 | Respiratory diseases‡ | 40 (30.1) | 37.39–42.61 | <0.001 | Coma | 6 (4.5) | 5.61–6.39 | 0.437 | Sepsis (culture positive) | 8 (6) | 7.48–8.52 | 0.300 | Laboratory parameters | | | | S. ammonia (umol/L) | 308.3 [] | 284.10–332.50 | <0.001 | S. glucose (mg/dL) | 91.1 [] | 90.54–91.66 | 0.262 | S. total protein (g/dL) | 5.75 [] | 5.61–5.77 | 0.863 | S. albumen (g/dL) | 2.97 [] | 2.91–3.03 | 0.904 | S. calcium total (mg/dL) | 8.04 [] | 7.95–8.13 | 0.863 | Haemoglobin (g/dL) | 10.96 [] | 10.77–11.15 | 0.703 | RBCs count (×106/mm3 | 4.23 [] | 4.15–4.31 | 0.876 | Platelets count (×103/mm3) | 206 [] | 193.51–218.49 | <0.001 | TLC (×103/mm3) | 5.34 [] | 5.07–5.61 | 0.592 | pH | 7.24 [] | 7.22–7.26 | 0.972 | Base excess (mmol/L) | −14.6 [] | 14.00–15.20 | 0.234 | HCO3 (mmol/L) | 13.2 [] | 12.68–13.72 | 0.304 |
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Acidotic breathing aspiration, apnoea, suppurative otitis media, sore throat, flu; ‡pneumonia, chronic lung disease, upper respiratory tract infection, and hyper reactive airway disease; RBCs: red blood cells, TLC: total leukocyte count, ANC: absolute neutrophil count, HCO3: bicarbonate.
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