Table 1 Clinical and laboratory findings in five patients with novel ETHE1 mutations

Patient	Age of onset	Psychomotor delay/regression	Hypotonia	Dystonia	Diarrhoea	Acrocyanosis	Petechiae	EMA, mmol/mol creatinine	C4, μmol/l	C5, μmol/l	Serum lactate mmol/l	COX, %
1	6 months	+/+	+	+	+	+	–	170	1.2	NA	2.67	58
2	First weeks	+/+	+	+	+	+	+	345	4.78	0.37	3.1	28
3	6 months	+/–	+	–	–	+	+	189	2.84	0.6	7.2	30
4	6 months	+	+	+	–	–	–	147	1.9	0.55	NA	NA
5	First weeks	+/+	+	+	+	+	+	100	NA	NA	NA	NA

COX, cyclooxygenase; EMA, ethylmalonic acid NA, not available; NV, normal values.
Normal values: EMA <20 mmol/mol creatinine; butyrylcarnitine (C4) 0.600 μmol/l; isovalerylcarnitin (C5( <0.250 μmol/l; serum lactate <2 mmol/l.