Skip to main content

Table 4 Genetic variants, GALC activity, and initial symptoms

From: A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life

Patient Number

Age of Onset (months)

Initial Symptoms

GALC Activity

Allele 1

Allele 2

1

6

Loss of developmental milestones

0.02

p.Thr529Met

30 kb deletion (exon 11–17)

2

6

Motor delay; Macrocephaly

0.06

30 kb deletion (exon 11–17)

p.Ile546Thr

3

6

Poor feeding

0

p.Gly57Ser; p.Ile562Thr

30 kb deletion (exon 11–17)

4

6

Irritability; Abnormal muscle tone

0

Unknown

Unknown

5

7

Motor delay

0.29

p.Gly284Ser

30 kb deletion (exon 11–17)

6

7

Loss of developmental milestones

0

p.Gly284Ser; p.Ile562Thr

p.Ile562Thr; p.Leu650Pro

7

7.5

Abnormal tone

0

p.Arg82Gly; p.Asp248Asn; p.Tyr319Cys

p.Ser303Phe; p.Ile562Thr

8

8

Loss of developmental milestones

0.04

p. Arg82Gly; p.Asp248Asn; p.Ala306Thr

p. Arg82Gly; p.Asp248Asn; p.Ala306Thr

9

8

Irritability; Abnormal muscle tone; Loss of developmental milestones

0.1

30 kb deletion (exon 11–17)

p.Thr529Met; p.Ile562Thr

10

8

Motor delay; Loss of developmental milestones

0.05

Unknown

Unknown

11

8

Loss of developmental milestones

0.13

Unknown

Unknown

12

9

Motor delay

0

30 kb deletion (exon 11–17)

p.Arg531Cys

13

9

Poor feeding

0.06

p.Ile128Lfsx27; p.Arg184Cys; p.Ile562Thr

p.Leu645Arg

14

10

Irritability

0.02

30 kb deletion (exon 11–17)

p.Leu325X

15

10

Loss of developmental milestones

0

Unknown

Unknown

16

10

Irritability; Loss of developmental milestones

0.05

Unknown

Unknown

17

11

Irritability; Loss of developmental milestones

0.2

p.Thr529Met

p.Thr529Met

18

12

Abnormal gait

0

p.Met117Val; p.Ile562Thr

p.Ser303Pro; p.Ile562Thr

19

12

Motor Delay

0.05

Unknown

Unknown

20

12

Irritability; Loss of developmental milestones

0.05

Unknown

Unknown

21

12

Irritability; Decreased movements; Loss of developmental milestones

0.05

Unknown

Unknown

22

12

Irritability; Abnormal muscle tone

0

Unknown

Unknown

23

12

Loss of developmental milestones

0.05

p.Thr529Met

p.Tyr567Ser

24

15

Abnormal gait

0

Unknown

Unknown

25

17

Loss of developmental milestones

0

p.Ala225Glu

p.Gly284Ser; p.Ile562Thr

26

24

Abnormal gait

0.12

p.Thr625Ala; Leu634Ser

p.Arg127Cys

27

24

Abnormal gait

0.08

Unknown

Unknown

28

25

Loss of vision; Irritability

0

Unknown

Unknown

29

25

Abnormal gait; Irritability

0.05

Unknown

Unknown

30

28

Abnormal gait; Slurred speech; Irritability

0.06

p.Arg127X; p.Ile562Thr

p.Gly284Ser; p.Ile562Thr

31

30

Loss of vision

0

p.Tyr319Cys

p.Tyr319Cys

32

31

Abnormal gait; Slurred speech

0.07

p.Met117Val; p.Ile562Thr

p.Ser303Phe p.Ile562Thr

33

Asymptomatic

N/A

0

p.Met117Val; p.Ile562Thr

p.Ser303Pro; p.Ile562Thr

34

Asymptomatic

N/A

0

Unknown

Unknown

35

Asymptomatic

N/A

0.08

Unknown

Unknown

  1. Displays the initial symptoms, GALC activity (measured in nmol/mg/h protein), and available genetic data (n = 20) for each patient. All mutations are transcribed based on standardized nomenclature from the Human Genome Variation Society (HGVS) [39]. Multiple variants located on the same allele are separated by a semi-colon. Patient 33, 34, and 35 were diagnosed and transplanted while still asymptomatic due to a family history of Krabbe disease. Patient 33 is the younger sibling of patient 18 and patient 35 is the younger sibling of patient 19 and 24. The older sibling of patient 34 was not included in the study