Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department

Figures & data

Table 1 Demographic data and clinical data

	Number	Percentage
Age (years)
<1	11	37
1–5	19	63
Male/female	18/12	60/40
Positive consanguinity	19	63
Family history	5	17
Neurologic manifestation
Disturbed level of consciousness	30	100
Seizures	19	63
Mental retardation	4	13
Microcephaly	2	7
Delayed motor development	10	33
Muscle weakness	3	10
Hypotonia	6	20
Hypertonia and spasticity	3	10
Gait abnormalities	2	7
No walk	0	0
Delayed walk	2	7
Speech abnormalities	1	3

Table 2 Systemic manifestations of patients with IEM

	Number	Percentage
Ophthalmic manifestation
Cataract	2	7
GIT manifestations
Recurrent vomiting	12	40
Hepatomegaly	9	30
Recurrent diarrhea	6	20
Cardiac manifestation	2	7
Cardiomegaly	1	3.5
VSD	1	3.5
Failure to thrive	12	40
Short stature	8	27
Hypoglycemia	3	10

Abbreviations: GIT, gastrointestinal tract; IEM, inborn error of metabolism; VSD, ventricular septal defect.

Table 3 Results of extended metabolic screen

Plasma amino acid	Number	Percentage
Absolute alanine elevation >450 μmol/L	12	40
Co-carnitine <5.2 μmol/L	3	10
Co-carnitine >60.3 μmol/L	3	10
Glycine >717 μmol/L	4	13
Proline >600 μmol/L	0	0
Phenylalanine >180 μmol/L	1	3
Tyrosine >225 μmol/L	0	0
Low borderline citrulline <3 μmol/L	2	7
Urinary organic acids
Elevated lactate	5	17
Elevated lactate only	2	7
Increased lactate, 2-oxoglutaric acid and valproic acid	1	3
Increased lactate, hippurate	2	7
Elevated succinate	1	3
Glutaric acid	1	3
No abnormality	22	73

Table 4 Radiographic findings of patients

	Number	Percentage
CT abnormalities	17	57
Atrophy	12	40
Brain edema	3	10
Basal ganglia abnormalities	2	7
Normal	8	27
MRI abnormalities	18	67
Atrophic changes	11	41
Basal ganglia calcification	2	7
White matter abnormalities	5	19
Normal/nonspecific	9	33
Slit lamp
Cataract	2	7
Echocardiography abnormalities	2	7
Cardiomegaly	1	50
VSD	1	50
Abdominal ultrasound abnormalities	12	40
Hepatomegaly	9	30
Hepatosplenomegaly	3	10

Abbreviations: CT, computed tomography; VSD, ventricular septal defect.