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Table 1 Summary of general information, clinical features, brain magnetic resonance imaging and biochemical examinations of five patients

From: Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report

  Patient 1 Patient 2 Patient 3 Patient 4 Patient 5
General information and clinical features
Gender Male Female Male Male Male
Age of onset 6 months 21 months 17 months At birth 10 months
Current age 4 years and 7 months 6 years 29 months 8 months 19 months
Initial presentation Nystagmus regression Episodes of dystonia Paroxysmal dyskinesia Diarrhea, eyes on the turn, myotonia of the lower limb
Central Nervous System Global developmental delay (HP:0001263);
Developmental regression (HP:0002376);
Nystagmus (HP:0000639);
Extrapyramidal dyskinesia (HP:0007308);
Babinski sign (HP:0003487);
Dystonia (HP:0001332)
Developmental regression (HP:0002376);
Dysarthria (HP:0001260);
Dystonia (HP:0001332)
Dystonia (HP:0001332) Motor deterioration (HP:0002333) Developmental regression (HP:0002376)
Brain magnetic resonance imaging
 Globus pallidus + + + + +
 Putamen + + + +
 Caudate nucleus + + + +
 Brain stem + +
 Summary Symmetric lesions of the basal ganglia (HP:0007039);
Brain atrophy (HP:0012444)
Symmetric lesions of the basal ganglia (HP:0007039) Symmetric lesions of the basal ganglia (HP:0007039) Symmetric lesions of the basal ganglia (HP:0007039) Symmetric lesions of the basal ganglia (HP:0007039)
Biochemical examination
 Plasma lactate
(mmol/L)
1.6- > 3.4
(0.5–2.2)
1.68
(0.5–2.2)
3.17- > 6.46
(0.5–2.2)
11.41
(0.5–2.2)
2.51
(0.5–2.2)
 Plasma pyruvate
(umol/L)
197–255 Not performed Not performed Not performed Not performed
 Acylcarnitine analysis
(DBS)
Normal profile Normal profile Normal profile Slight increase in C4OH Normal profile
 Organic acid analysis Increases in
2,3-dihydroxy-2-
Methylbutyrate (0.0446)
Increases in 3-hydroxyisovaleric acid and 2,3-dihydroxy-2-
Methylbutyrate (0.0445)
Increases in
2,3-dihydroxy-2-
Methylbutyrate
Increases in
2,3-dihydroxy-2-
Methylbutyrate
Increases in
pyruvate
 Skin biopsy Not performed OCR:79%/78% (Glucose/Galactose medium)
MRC enzyme activity measurement: no significance
OCR:56%/71% (Glucose/Galactose medium)
MRC enzyme activity measurement: no significance
Not performed Not performed