Table 1.

Summary of clinical features of four patients with ECHS1 deficiency

	Patient 1	Patient 2	Patient 3	Patient 4
Gender	Male	Male	Female	Male
Birth history	ECS, 37+4 IUGR	First sibling Term baby, SVD	SVD, 37 weeks (sibling RIP at 21 months)	Third affected sibling SVD, 34+5
Birth weight	2.6 kg	3.7 kg	3.26 kg	2.31 kg
Age at presentation	5 months	3 months	5 months	2 weeks
Age at death	4 years	21 months	28 months	13 months
Initial presentation	Poor feeding, excessive crying. Head lag, central hypotonia, peripheral hypertonia, Nystagmus Global delay	No neonatal concerns FTT, central hypotonia, hepatosplenomegaly	No neonatal concerns Significant faltering growth, motor delay, central hypotonia, hepatomegaly	Feeding problems, irritable, hypotonic
Seizures	From 11 months	Ocular flutters from 9 months	From 5 months	From 9 months
Faltering growth	Weight 2nd percentile at birth, <0.4th percentile at 1 year, improvement post PEG insertion	At 19 months failure to gain weight at 7.66 kg (<3rd percentile) NG tube inserted at 19 months	5 months OFC at 0.4th percentile; weight at 2nd percentile. NG fed at 15 months, PEG inserted at 20 months	Weight 9th percentile at birth, <0.4th percentile at 12 weeks. NG fed then PEG inserted at 10 months
Global developmental delay and regression	Profound developmental delay with loss of skills	Gross psychomotor delay with loss of skills	Profound developmental delay with loss of skills	Profound developmental delay with loss of skills
Other clinical features	Increased oral secretions, chronic vomiting, apnea	Dyskinetic CP	Dystonic posturing, apnea	Profound irritability, apnea

CP = cerebral palsy; ECS = emergency cesarean section; IUGR = intra uterine growth retardation; MRS = magnetic resonance spectrosopy; OFC = occipital frontal circumference; PEG = percutaneous endoscopic gastrostomy; SVD = spontaneous vaginal delivery.