Table 2 Clinical and genetic findings of patients with MAT I/III deficiencies; summary of reported cases

AR

p.(Leu355Arg);(Leu355Arg)

1 (1)

485

21

Normal

NA

(6)

AR

p.(Thr288Ala);(Thr288Ala)

1 (1)

899

23.1

Normal

NA

(6)

Carrier

p.(Thr288Ala)

1 (1)

59.2

NA

Normal

NA

Carrier

p.(Argl99Cys)

1 (1)

25

NA

Normal

11.1

(6)

AR

p.(Glu57Lys);(Gln245Profs*20)

1 (1)

461

<13.5

Normal

NA/NA

(7)

AR

c. (IVS2-2A>G); p. (Arg292Cys)

1 (1)

938

<13.5

Normal

NA/18

(7)

AR

p.(Val230Met);(Arg356Pro)

1 (1)

328

<13.5

Normal

NA/10

(7)

AR

p.(Arg356Gln);(Arg356Gln)

1 (1)

592

<13.5

Normal

53.1/53.1

(7)

AR

p.(Glul45Lys);(Arg292Cys)

1 (1)

766

36

Myelination delay

NA/∼18

(7)

AR

p.(Arg292Cys);(Arg356Leu)

1 (1)

395–1,676

<13.5

Transient myelination arrest, epilepsy

∼18/NA

(7)

AR

p.(Arg356Gln);(Gly378Ser)

1 (1)

254–400

NA

Normal

53.1/0.17

(11)

AR

p.(Ala276Glyfs*76); (Ala276Glyfs*76)

1 (1)

600–1,400

NA

Dyspraxia, demyelination, calcification of basal ganglia, headache, fine nystagmus, diadokokinesis

NA

(11)

AR

p.(splicing);(Argl99Cys)

1 (1)

1,544–1,685

NA

Abnormal

NA/11

(11)

AR

p.(Tyr92His);(Arg356Pro)

2(3)

402–2,250

<13.5–37.4

White matter lesion (1 pt), demyelination (3 pt), normal development (3 pt)

100/10

(12,24)

AR

p. (Ser 180Leufs*6); (Trp274Ser)

1 (1)

216–1,457

NA

Normal

NA/NA

(13)

AR

p.(lle322Met);(lle322Met)

1 (1)

100–1,270

NA

Normal

45.8/45.8

(14)

AR

p.(leu305pro);(lle322Met)

1 (1)

364–583

NA

Normal

26/45.8

(14)

AR

p.(Ala55Asp);(Pro357Leu)

1 (1)

315–1,020

NA

Normal

17.2/31

(14)

AR

p. (Met64Lys); (Pro 197Leufs*26)

1 (1)

134-1,567

45.5

Normal

NA

(16)

Carrier

p.(Met64Lys)

1 (1)

36.3

NA

Normal

NA

Carrier

p.(Prol97Leufs*26)

1 (1)

14.9

NA

Normal

NA

AR

p. (Arg264Cys); (Pro357 Leu)

1 (1)

648

5.43

Normal

0.3/31

(17)

AR

p.(Pro357Leu);(Pro357Leu)

1 (1)

305

9.76

Normal

31

(17)

AR

p.(Arg356Pro);(Pro357Leu)

1 (1)

622

7

Normal

∼10/31

(17)

AR

p.(Gly69Ser);(*396Tyr)

1 (1)

1560

15

Normal

100/NA

(17)

AR

p.(lle37Thr);(Gly91Ser)

1 (1)

86.5–406

13.57

Normal

NA/NA

(18)

AR

p. (Arg299Cys); (Arg299Cys)

1 (1)

1,067–1,426

NA

Hypomyelination, anomalous signals In the gray matter and a heterogeneous hyposignal from the posterior part of the basal ganglia

18/18

(19)

AR

p.(Gly381Arg);(Gly381Arg)

1 (1)

1,378–1,884

NA

Normal

∼30/∼30

(19)

AR

p.(Gly279Val);(lle322Val)

1 (1)

596

NA

Normal

NA/∼1

(19)

AR

p.(Ala297Asp);(Serl80Leufs*6)

1 (2)

1,549–1,614

NA

Developmental delays, especially of speech

20/NA

(19,24)

AR

p. (Arg356Trp); (Arg356Trp)

1 (1)

1,846

NA

Severely retarded

∼3/∼3

(19,24)

AR

p.(Arg299his);(Arg299His)

3(5)

641–1,634

NA

Developmental delay and myoclonic epilepsy (1 pt), prolonged relaxation time in MR and normal development (1 pt) dysdiadochokinesls (1 pt)

∼17/∼17

(19,24)

AR

p.(Ser22Leu);(Ser22Leu)

1 (1)

850–1,100

30–45

Normal

52/52

(19,27)

AR

p.(Leu42Pro);(Leu42Pro)

1 (1)

390–2,070

59

Normal

∼10/10

(19,27)

AR

p.(Gly378Ser);(Trp387*)

1 (2)

1,089-1,243

19.7-28.6

Normal

0.2/75

(22)

Carrier

p.(Gly378Ser)

1 (1)

11

NA

Normal

0.2

AR

p.(Trp387*);(Trp387*)

1 (1)

16–23

NA

Normal

75/75

AR

p.(Val230Gly);(Val230Gly)

1 (2)

518–525(838)

NA

Normal

NA

(24)

AR

p.(Leul76Gln);(Leul76Gln)

1 (1)

57–200

NA

Normal

NA

(24)

AR

p.(Asp286Asn);exons 6–8 del

1 (1)

106–1,570

NA

Normal

NA/NA

(24)

AR

p.(Argl77Trp); (Argl77Trp)

1 (1)

97–641

NA

Normal

NA

(24)

AR

c.(169+ 1G>A);(169+ 1G>A)

1 (1)

860–1,130

NA

Normal

NA

(24)

AR

p.(Argl99His);(Argl99His)

1 (1)

118–208

NA

Normal

NA

(24)

AR

p.MATlAdel;MATl Adel

1 (1)

192–1,608

NA

White matter lesions

NA

(24)

AR

p.(lle203del);(lle203del)

1 (1)

148–1,490

NA

White matter change, speech delay

NA

(24)

AR

p.(Arg312Trp;(Arg312Trp)

1 (1)

460–1,437

NA

White matter lesions, delayed myelination, IQ78

NA

(24)

AR

p.(Gly98Arg);(Gly98Arg)

1 (1)

507-1,012

NA

White matter change, delayed myelination

NA

(24)

AR

p.(Lys351*);(Lys351*)

1 (1)

unknown

NA

Delayed myelination

NA

(24)

AR

p.(Gln246Profs*20);(Arg264Cys)

1 (1)

938–1,271

NA

White matter lesions, delayed myelination

NA/0.3

(24)

AR

p.(Serl80Leufs*6); (Serl80Leufs*6)

2 (2)

686–2,541

5–24.9

Normal

NA

(25)

AR

p.(Serl80Leufs*6); p.(Argl99Cys)

1 (1)

759–1,467

19.3

Normal

NA/11.1

(25)

AR

p.(Val348Glyfs*3);(Val348Glyfs*,3)

1 (1)

1,114–1,629

NA

MR, dystonia, demyelination

NA

(25)

AR

p.(IVS3-lG>A);(IVS3-lG>A)

1,226–1,664

47.5

Delay of early gross motor, diffusely abnormal white matter and patchy basal ganglia bilaterally, demyeliniation, Deterioration by pyridoxine treatment

NA

(3,25)

AR

p. (Arg264Cys);(Gly336Arg)

1 (1)

1,721–1,870

15.1

Borderline mentality

0.3/22.9

(25)

Carrier

p.(Arg264Cys)

1 (1)

30

NA

Normal

0.3

AR

p.(Ser38Asn);(Thr86Hisfs*8)

1 (1)

770–1,240

NA

Demyelination

0/NA

(25)

AR

p. (Arg 199Cys); (Arg 199Cys)

2(3)

374–902

7.7–8.6

Normal

11.1/11.1

(25)

AR

p.(lle322Met);(Glu344Ala)

1 (1)

185–467

NA

Normal

45.8/12.1

(25)

AD

p.(Arg264His)

53 (131)

32–666

7.3-22.8

Myelination abnormality (1 pt), normal (130 pts)

0.1

(4–9,11,14,17,18)