Clinical Spectrum of Propionic Acidaemia

Table 2

Important clinical, physical, and laboratory findings and diagnoses of diseases on initial presentation in 133 admissions of 26 patients with PA and comparison of these findings with other studies.

Variables	Current study in %	Lehnert et al. 1994 [2]	Other studies	𝑃 value
Symptoms
Lethargy/apathy/somnolence	68	73	55^‡	<0.001
Poor feeding and vomiting	77	83	91^‡	<0.001
Dyspnoea, cough, and others^†	36	57	—	<0.001
Seizures	13	43	23^¶	<0.001
Loss of consciousness	18	—	15^¶	0.013
Physical findings
Muscular hypotonia	62	73	48^¶	<0.001
Malnutrition	80	59	—	<0.001
Laboratory Parameters
Hyperammonaemia (>80 umol/L)	96	88	100^‡	0.003
Hypoglycaemia (<50 mg/dL)	12	17	—	<0.001
Hyperglycaemia (>200 mg/dL)	2	17	—	<0.001
Hypoproteinemia (<5.5 g/dL)	27	33	—	0.013
Hypocalcaemia (<8.4 mg/dL)	65	—	36^‡	<0.001
Pancytopenia	36	41	—	0.013
Anaemia (Hb. < 10 g/dL)	26	72	—	<0.001
Thrombocytopenia (<150,000/mm^3)	39	62	18^‡	<0.001
Neutropenia, ANC (<1500 × 10^9/L)	36	83	27^‡	0.002
Acidosis pH < 7.35/HCO3 < 18 mmol/L	77	90	56§	0.245
Alkalosis, pH > 7.45/HCO3 > 28 mmol/L	8	—	18^‡	<0.001
Diagnosis
Sepsis (culture proven)	6	—	18^‡	<0.001
Suspected sepsis	33	60	85*	<0.001
Death	8	40	32§	<0.001

Others^†: acidotic breathing aspiration, apnoea, suppurative otitis media, sore throat, flu; ^‡Walter et al., 1995 [7]; ¶Schreiber et al., 2012 [1]; §Ozand et al., 1994 [8]; *Chapman et al., 2012 [9].