Table 1.

Summary of presenting clinical features

	Infant 1	Infant 2	Reference range
Ethnicity	Chinese	Filipino
Consanguinity	Non-consanguineous	Non-consanguineous
Gestation	36 + 2 weeks	40 weeks
Birth weight	1810 g	3118 g
Centile	2nd	17th
Z-score	−2.14	−0.97
Age at presentation	4 days	4 h
Presenting clinical feature	Pallor, lethargy	Tachypnoea
Laboratory values at presentation
pH	7.15	7.11	7.32–7.46
Base deficit	−21	−12	−5 to 5
Lactate (mmol/L)	13	11	1.0–1.8
Haemoglobin (g/L)	57	91	125–205
White cell count (×109/L)	7.4	7	6–26
Neutrophil count (×109/L)	3.1	1.9	3.2–13.8
Platelets (×109/L)	309	325	150–450
Nijmegen score—total	4	2
Clinical
Muscular	0	0
Neurological	0	0
Multisystem	2 (GI disease, cardiomyopathy)	0
Metabolica
Elevated lactate	2	2
Elevated alanine	0	0
Krebs’ cycle intermediates	0	0
Ethyl malonic and methyl malonic acid	0	0
3 methyl glutaconic acid	0	0
CSF lactate, alanine	0	0
Imaging/otherb	0	0

^aLactate was the only metabolic test requested at the time of recruitment

^bMRI brain was not requested for either infant