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 |