Clinical Spectrum of Propionic Acidaemia

Table 3

Important clinical features and laboratory parameters on initial presentations in 𝑛=133 admissions of 26 patients with PA.

Findings/investigations	𝑛 (%)/mean (SD)	CI, 95%	𝑃 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 [279.1]	284.10–332.50	<0.001
S. glucose (mg/dL)	91.1 [67.5]	90.54–91.66	0.262
S. total protein (g/dL)	5.75 [1]	5.61–5.77	0.863
S. albumen (g/dL)	2.97 [0.7]	2.91–3.03	0.904
S. calcium total (mg/dL)	8.04 [1]	7.95–8.13	0.863
Haemoglobin (g/dL)	10.96 [2.2]	10.77–11.15	0.703
RBCs count (×10^6/mm^3	4.23 [0.9]	4.15–4.31	0.876
Platelets count (×10^3/mm^3)	206 [144]	193.51–218.49	<0.001
TLC (×10^3/mm^3)	5.34 [3.1]	5.07–5.61	0.592
pH	7.24 [0.21]	7.22–7.26	0.972
Base excess (mmol/L)	−14.6 [6.9]	14.00–15.20	0.234
HCO3 (mmol/L)	13.2 [5.95]	12.68–13.72	0.304

†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.