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Table 1 Clinical features of previously reported patients with ECHS1 deficiency

From: Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature

Reference

This report

Peters et al.201 4[1]

Sakai et al.2014 [2]

Haack et al.2015 [3]

Patient ID

Patient 1

Patient 2

Patient 1

Patient 2

Paient 1

F1,II:2

F2,II:1

F3,II:6

F4,II:1

Genetic mutation Protein effect

c.161G>A/c.414 + 1G>A

p.Arg54His/−

c.74G>A/c.74G>A

p.R25H/p.R25H

c.473C > A/c.414 + 3G > C

p.Ala158Asp/splicing

c.473C > A/c.414 + 3G > C;

p.Ala158Asp/splicing

c.2 T > G’/c.5C > T;

p.Met1Arg/p.Ala2Val

c.176A > G/c.476A > G;

p.Asn59Ser/p.Gln159Arg

c.197 T > C/c.449A > G;

p.Ile66Thr/p.Asp150Gly

c.476A > G/c.476A > G;

p.Gln159Arg/p.Gln159Arg

c.161G > A/c.817A > G;

p.Arg54His/p.Lys273Glu

Gender

F

M

F

M

M

F

M

F

M

Age of onset;

8 months

2 years

Birth

Birth

2 months

Birth

Birth

Birth

Birth

Death

Alive at 2 years

Alive at 5.2 years

4 months

8 months

Alive at 4 years

4 months

11 months

2.3 years

7.5 years

Developmentaldelay/regression

+

+

NL

+

+

NL

+

+

+

Hearing loss

–

–

NL

NL

+

+

+

NL

NL

Optic atrophy

ND

–

NL

NL

NL

NL

+

NL

NL

Epilepsy

–

–

NL

NL

NL

+

+

+

+

Dystonia

+

+

NL

NL

NL

NL

+

+

+

Nystagmus

+

–

NL

+

+

NL

NL

NL

NL

Cardiomyopathy

ND

ND

–

HCM

–

HCM

HCM

ND

–

MRI: basal ganglia T2 hyperintensity

+

+

+

–

+

+

+

+

NL

MRS: lactate

+

ND

+

+

NL

NL

+

–

–

Elevated plasmalactate

+

–

+

+

+

+

+

+

NL

Elevated pyruvate

+

–

+

+

NL

NL

NL

ND

ND

Urinary 2-methyl, 2,3-dihydroxybutyrate

+

+

+

+

NL

ND

–

ND

ND

SCPCM/SCPC/ N-acetyl-SCPC

ND

SCPCM+

SCPCM+;SCPC+

SCPCM+;SCPC+

ND

ND

ND

ND

ND

Reference

Haack et al.2015 [3]

Ferdinandusse et al.2015 [4]

Patient ID

F5,II:3

F6,II:1

F7,II:2

F8,II:1

F9,II:2

F10,II:1

Patient 1

Patient 2

Patient3

Genetic mutation Protein effect

c.673 T > C/c.673 T > C; p.Cys225Arg/p.Cys225Arg

c.98 T > C/c.176A > G; p.Phe33Ser/p.Asn59ser

c.268G > A/c.583G > A; p.Gly90Arg/p.Gly195Ser

c.161G > A/c.394G > A;

p.Arg54His/p.Ala132Thr

c.161G > A/c.431up;

p.Arg54His/p.Leu145Alafs*6

c.229G > C/c.476A > G;

p.Glu77Gln/p.Gln159Arg

c.817A > G/c.817A > G;

p.Lys273Glu/p.Lys273Glu

c.817 > G/c.817A > G;

p.Lys273Glu/p.Lys273Glu

c.433C > T/c.476A > G;

p.Leu145Phe/p.Gln159Arg

Gender

F

F

F

F

F

F

F

F

F

Age of onset;

Birth

Birth

2 years

1 Year

Birth

11 months

Birth

Birth

Early infancy

Death

Alive at2 years

Aliveat 3 years

Alive at 5 years

Alive at 8 years

Alive at 16 years

Alive at 31 years

24 h

2 days

Alive at 7 years

Developmentaldelay/regression

+

+

+

+

+

+

NL

NL

+

Hearing loss

NL

+

+

+

+

+

NL

NL

+

Optic atrophy

NL

NL

–

–

+

+

NL

NL

+

Epilepsy

+

+

–

+

–

+

NL

NL

NL

Dystonia

–

+

+

–

+

+

NL

NL

+

Nystagmus

NL

NL

NL

NL

+

+

NL

NL

NL

Cardiomyopathy

HCM

DCM

ND

NL

–

–

+

–

NL

MRI: basal ganglia T2 hyperintensity

+

+

+

NL

+

+

NL

+

NL

MRS: lactate

–

NL

+

NL

+

–

NL

NL

NL

Elevated plasmalactate

+

+

–

+

+

+

+

+

+

Elevated pyruvate

+

ND

–

NL

NL

NL

+

+

ND

Urinary 2-methyl, 2,3-dihydroxybutyrate

+

ND

+

ND

ND

–

+

+

+

SCPCM/SCPC/ N-acetyl-SCPC

ND

ND

ND

SCPCM+

SCPCM+

ND

ND

ND

SCPCM+;SPCP+

Reference

Ferdinandusse et al.2015 [4]

Tetreault et al.2015 [5]

Yamada et al.2015 [6]

Ganetzky et al.2016 [7]

Patient ID

Patient4

P1

P2

P3

P4

III-2

III-3

Patient 1

Patient 2

Genetic mutation

Protein effect

c.673 T > C/c.674G > C;

p.Cys225Arg/p.Cys225Ser

c.538A > G/c.583G > A;

p.Thr180Ala/p.Gly195Ser

c.538A > G/c.713C > T;

p.Thr180Ala/p.Ala238Val

c.538A > G/c.713C > T;

p.Thr180Ala/p.Ala238Val

c.538A > G/c.476A > G;

p.Thr180Ala/p.Gln159Arg

c.176A > G/c.413C > T;

p.Asn59Ser/p.Ala138Val

c.176A > G/c.413C > T;

p.Asn59Ser/p.Ala138Val

c.8C > A/c.389 T > A;

p.Ala3Asp/p.Val130Asp

c.8C > A/c.389 T > A;

p.Ala3Asp/p.Val130Asp

Gender

M

F

M

M

F

F

M

M

F

Age of onset;

1 year

2.5 months

2.9 years

10 months

6 months

10 months

7 months

Prenatal

Prenatal

Death

Alive at 1 year

10 months

Alive at 18 years

Alive at 12 years

Alive at 12 years

Alive at 7 years

5 years

16 h

24 h

Developmental

delay/regression

+

+

+

+

+

+

+

NL

NL

Hearing loss

NL

–

+

+

+

–

NL

NL

NL

Optic atrophy

+

–

+

+

+

NL

NL

NL

NL

Epilepsy

 

NL

NL

NL

NL

–

–

NL

NL

Dystonia

+

–

+

–

+

+

+

NL

NL

Nystagmus

NL

+

+

+

+

NL

NL

NL

NL

Cardiomyopathy

NL

NL

NL

NL

NL

ND

ND

DCM

DCM

MRI: basal ganglia

T2 hyperintensity

+

+

+

+

+

+

+

NL

NL

MRS: lactate

+

+

–

–

–

NL

NL

NL

NL

Elevated plasmalactate

+

+

+

+

–

–

–

+

+

Elevated pyruvate

ND

NL

NL

NL

N/A

+

NL

+

+

Urinary 2-methyl, 2,3-dihydroxybutyrate

+

ND

ND

ND

ND

–

+

ND

+

SCPCM/SCPC/

N-acetyl-SCPC

SCPCM+;SPCP+

ND

ND

ND

ND

N-acetyl-SPCPM+

N-acetyl-SPCPM+

ND

ND

Reference

Nair et al.2016 [8]

Olgiati et al.2016 [9]

Mahajan et al.2017 [10]

Bedoyan etal.2017 [11]

Huffnagel etal.2017 [12]

Al Mutairi et al.2017 [13]

Balasubramaniam et al.2017 [14]

Patient ID

Patient 1

II-1

II-2

Patient1

Patient1

Patient1

Patient 1

Patient 2

Patient1

Genetic mutation

Protein effect

c.842A > G/c.842A > G;

p.Glu281Gly/p.Glu281Gly

c.232G > T/c.518C > T;

p.Glu78Ter/p.Ala173Val

c.232G > T/c.518C > T;

p.Glu78Ter/p.Ala173Val

c.518C > T/c.817A > G;

p.Ala173Val/p.Lys273Glu

c.836 T > C/c.8C > A;

p.Phe279Ser/p.Ala3Asp

c.229G > C/c.563C > T

p.Glu77Gln/p.Ala188Val

c.88 + 5G > A/c.88 + 5G > A;

p.Ala31Glufs*23/p.Ala31Glufs*23

c.88 + 5G > A/c.88 + 5G > A;

p.Ala31Glufs*23/p.Ala31Glufs*23

c.476A > G/c.538A > G; p.Gln159Arg/p.Thr180Ala

Gender

F

M

M

M

M

F

F

M

F

Age of onset;

Birth

3.5 years

4.5 years

8 years

Birth

6 weeks

Birth

Birth

17 months

Death

24 h

Alive at 17 years

Alive at 15 years

Alive at 8 years

39 days

Alive at 26 years

2 days

8 h

Alive at 4.5 years

Developmentaldelay/regression

+

+

–

NL

NL

+

NL

NL

+

Hearing loss

NL

NL

–

NL

+

–

NL

NL

–

Optic atrophy

NL

NL

–

NL

–

+

NL

NL

–

Epilepsy

NL

–

–

NL

NL

–

NL

NL

NL

Dystonia

NL

+

+

+

+

+

NL

NL

+

Nystagmus

NL

NL

–

NL

NL

+

NL

NL

NL

Cardiomyopathy

–

NL

NL

NL

ND

–

ND

ND

NL

MRI: basal ganglia T2 hyperintensity

NL

+

+

+

+

+

ND

ND

+

MRS: lactate

NL

–

NL

NL

+

–

ND

ND

NL

Elevated plasmalactate

+

–

–

–

+

+

+

+

+

Elevated pyruvate

–

–

–

ND

+

–

+

NL

–

Urinary 2-methyl, 2,3-dihydroxybutyrate

+

–

–

ND

+

ND

ND

ND

ND

SCPCM/SCPC/ N-acetyl-SCPC

ND

SPCPM+;

N-acetyl-SPCPM+

SPCPM+;

N-acetyl-SPCPM+

ND

ND

SCPCM+;SCPC+; N-acetyl-SCPC+

ND

ND

ND

Reference

Ogawa et al.2017 [15]

Fitzsimons et al.2018 [16]

Carlston et al.2018 [17]

Shayota et al.2018 [18]

Patient ID

Pt376

Pt536

Pt1038

Pt1135

Patient 1

Patient 2

Patient 3

Patient 4

Patient 1

Patient1

Genetic mutation Protein effect

c.98 T > C/c.176A > G;

p.Phe33Ser/p.Asn59Ser

c.5C > T/c.1A > G;

p.Ala2Val/p.Met1Val

c.5C > T/c.176A > G;

p.Ala2Val/p.Asn59Ser

c.5C > T/c.176A > G;

p.Ala2Val/p.Asn59Ser

c.476A > G,/c.476A > G;

p.Gln159Arg/p.Gln159Arg

c.538A > G/ c.538A > G, p.Thr180Ala/p.Thr180Ala

c.538A > G/ c.538A > G, p.Thr180Ala/p.Thr180Ala

c.538A > G/ .538A > G, p.Thr180Ala/p.Thr180Ala

c.79 T > G/c.789_790del;

p.Phe27Val/p.Phe263fs

c.538A > G/c.444G > T

p.T180A/p.M148I

Gender

NL

NL

NL

NL

M

M

F

M

M

M

Age of onset;

NL

NL

NL

NL

5 months

3 months

5 months

2 weeks

1 year

2.5 months

Death

NL

NL

NL

NL

4 years

21 months

28 months

13 months

9 years

Alive at 15 months

Developmentaldelay/regression

NL

NL

NL

NL

+

+

+

+

+

+

Hearing loss

NL

NL

NL

NL

NL

NL

NL

NL

+

ND

Optic atrophy

NL

NL

NL

NL

NL

NL

NL

NL

–

ND

Epilepsy

NL

NL

NL

NL

+

+

+

+

–

+

Dystonia

NL

NL

NL

NL

+

+

+

+

–

+

Nystagmus

NL

NL

NL

NL

+

NL

NL

NL

NL

NL

Cardiomyopathy

ND

ND

ND

ND

ND

ND

ND

ND

ND

ND

MRI: basal ganglia T2 hyperintensity

ND

ND

ND

ND

+

+

+

+

+

+

MRS: lactate

ND

ND

ND

ND

+

+

–

+

+

NL

Elevated plasmalactate

ND

ND

ND

ND

+

+

+

+

–

+

Elevated pyruvate

ND

ND

ND

ND

ND

ND

ND

ND

–

 

Urinary 2-methyl, 2,3-dihydroxybutyrate

ND

ND

ND

ND

+

+

+

+

–

ND

SCPCM/SCPC/ N-acetyl-SCPC

ND

ND

ND

ND

SPCP+

ND

ND

SPSP+

ND

ND

  1. NL, not listed;ND, not determined, HCM hypertrophic cardiomyopathy, DCM dilated cardiomyopathy, SCPCM S-(2-caboxypropyl)cysteamine, SCPC S-(2-carboxypropyl)cysteine, N-acetyl-SCPC N-acetyl-S-(2-carboxypropyl)-cysteine (N-acetyl-methacryl-l-cysteine