TABLE 2.
Summary of phenotypic characteristics of cases with 3‐methylglutaconic aciduria, type V syndrome compared to the current case
| Davey et al. (2006) (n = 18) [5] | Ojala et al. (2012) (n = 2) [14] | Al Teneiji et al. (2016) (n = 1) [15] | Ucar et al. (2017) (n = 1) [4] | Machiraju et al. (2021) (n = 43) [10] | Our patient (n = 1) | Total | |
|---|---|---|---|---|---|---|---|
| Ancestry | Canadian Hutterite | Finnish | Not reported | Turkish | Canadian Hutterite | Arab | |
| Gender/age mean | 11 male, 7 female (11 alive), (7 deceased)/mean age 16 month | 2 male (1 alive), (1 deceased)/mean age 15 month | 1 alive/13 years | 1 deceased/3 years | 24 male, 19 female | 1 alive/4 years | |
| cDNA change |
Homozygous c.130‐1G>C Exon 4 |
Homozygous c.300delA, (p. Ala101Profs*10) Exon 6 |
Homozygous c.280+1_280+5delGTAAG Exon 5 |
Homozygous c.63delC, (p.Tyr21*) Exon 3 |
Homozygous c.130‐1G>C Exon 4 |
Homozygous c.159del (p.Phe54Leufs*5) Exon 4 |
|
| Mutation type | Splice site | Frame shift | Splice site deletion | Stop mutation | Splice site | Frame shift | |
| Consanguinity | No | No | Yes | Yes | No | Yes | |
| IUGR | 8:18 | 0:2 | Not reported | 1:1 | Not reported | 0:1 |
9/22 (41%) |
| Growth failure | 18:18 | 2:2 | 1:1 | 1:1 | Not reported | 1:1 |
23/23 (100%) |
| Dysmorphic features | 0:18 | 0:2 | 0:1 | 1:1 | Not reported | 0:1 |
1/23 (4.3%) |
| Dilated cardiomyopathy | 12:18 | 2:2 | 1:1 | 1:1 | 9:18 | 1:1 |
26/41 (63%) |
| Prolonged QT interval | 6:18 | 2:2 | 1:1 | Not reported | 15:18 | 1:1 |
25/40 (62.5%) |
| Developmental delay | 10:18 | Not reported | 1:1 | 1:1 | 18:19 | 1:1 |
31/40 (77.5%) |
| Abnormal vision | 4:18 | 0:2 | Not reported | 0:1 | 10:11 | 1:1 |
15/33 (45%) |
| Seizure | 2:18 | 0:2 | 0:1 | 0:1 | 5:20 | 1:1 |
8/42 (17%) |
| Microcytic hypochromic anemia | 12:18 | 2:2 | Not reported | 1:1 | Not reported | 0:1 |
14/22 (63.6%) |
| Hepatic dysfunction | 8:18 | 1:2 | 1:1 | 1:1 | Yes (the number was not indicated) | 0:1 |
11/23 (47.8%) |
| Increase 3‐methylglutaconic aciduria | 18:18 | 2:2 | 1:1 | 1:1 | 43:43 | 1:1 |
66/66 (100%) |