Table 1.
Genetic and phenotypic findings of patients with β-ureidopropionase deficiency
| Patient No. | Origin | Consanguinity | Sex | Age at diagnosis (years) | Age at follow-up (years) | Symptom | Genotype | Effect | Location | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Japan | - | F | 0.2 | 5.0 | Seizures (West syndrome) | c.[977G > A] + [977G > A] | p.[R326Q] + [R326Q] | Ex 9 | van Kuilenburg, et al 2012 |
| 2 | Japan | - | M | 3.5 | 16.0 | MR, Autism | c.[977G > A] + [977G > A] | p.[R326Q] + [R326Q] | Ex 9 | Present study |
| 3 | Japan | - | M | 1.0 | 2.8 | Motor retardation MR | c.[811G > A] + [977G > A] | p.[E271K] + [R326Q] | Ex 7, Ex 9 | Present study |
| Turkeya) | + | M | 0.8 | NA | Seizures | c.[1076C > T] + [1076C > T] | p.[T359M] + [T359M] | Ex 10 | van Kuilenburg, et al 2012 | |
| Egyptb) | + | F | Birth | NA | Seizures, MC | c.[105-2A > G] + [105-2A > G] | splicing | Int 1 | van Kuilenburg, et al 2012 | |
| Egyptb) | + | M | Birth | NA | Seizures, MC | No DNA available | van Kuilenburg, et al 2012 | |||
| Egypt | + | M | 0.8 | NA | Seizures, MR, hypotonia | c.[38 T > C] + [38 T > C] | p.[L31S] + [L31S] | Ex 1 | van Kuilenburg, et al 2012 | |
| Pakistan | + | F | 2.0 | NA | MC, MR, hypotonia, Autism | c.[792C > A] + [873 + 1G > A] | p.[S264R] + splicing | Ex7, Int 7 | van Kuilenburg, et al 2012 | |
| China | − | M | 1.1 | NA | MC, MR | c.[977G > A] + [977G > A] | p.[R326Q] + [R326Q] | Ex 9 | van Kuilenburg, et al 2012 | |
| Germany | − | F | 0.9 | NA | Seizures, hypotonia | c.[703 > A] + [917-1G > A] | p.[G235R] + splicing | Ex 6, Int 8 | van Kuilenburg, et al 2012 | |
| China | − | M | 3.0 | NA | MR | c.[706C > T] + [792C> A] | p.[R236W] + [S264R] | Ex 6, Ex 7 | van Kuilenburg, et al 2012 | |
| Turkey | + | F | 5.3 | NA | MR, hypotonia | c.[105-2A > G] + [917-1G > A] | splicing | Int 1, Int 8 | Assmann et al 1998; van Kuilenburg 2004 | |
| Turkey | + | F | 3.0 | NA | Seizures, MR | c.[105-2A > G] + [105-2A > G] | splicing | Int 1 | van Kuilenburg 2004 | |
| Germany | − | M | 0.9 | NA | Seizures, MC, MR, hypotonia | c.[917-1G > A] + [917-1G > A] | splicing | Int 8 | Assmann et al 2006; van Kuilenburg 2004 | |
| African | − | F | 1.0 | NA | Seizures | c.[254C > A] + [254C > A] | p.[A85E] + [A85E] | Ex 2 | van Kuilenburg 2004 | |
| Australia | − | M | 1.0 | NA | Urogenital and colorectal system anomalies | c.[209G > C] + [105-2A > G] | p.[R70P] + splicing | Ex 2 Int 1 | Yaplito-Lee et al 2008 | |
| Turkeya) | F | 30, CT | NA | AS | c.[1076C > T] + [1076C > T] | p.[T359M] + [T359M] | Ex 10 | van Kuilenburg, et al 2012 | ||
| Egyptb) | M | 27, CT | NA | AS | c.[105-2A > G] + [105-2A > G] | splicing | Int 1 | van Kuilenburg, et al 2012 | ||
| 4 | Japan | − | M | NS | 5.3 | Absence seizure, febrile seizure | c.[977G > A] + [977G > A] | p.[R326Q] + [R326Q] | Ex 9 | Present study |
| 5* | Japan | − | F | NS | 5.5 | AS | c.[857 T > C] + [977G > A] | p.[I286T] + [R326Q] | Ex7, Ex9 | Present study |
| 6* | Japan | − | F | NS | 5.5 | AS, hypermetropia | c.[857 T > C] + [977G > A] | p.[I286T] + [R326Q] | Ex7, Ex9 | Present study |
| 7 | Japan | − | M | NS | 10.5 | AS | c.[977G > A] + [977G > A] | p.[R326Q] + [R326Q] | Ex 9 | Present study |
| 8 | Japan | − | M | NS | 2.5 | AS | c.[977G > A] + [977G > A] | p.[R326Q] + [R326Q] | Ex 9 | Present study |
| 9 | Japan | − | F | NS | 2.9 | AS | c.[977G > A] + [977G > A] | p.[R326Q] + [R326Q] | Ex 9 | Present study |
| 10 | Japan | − | M | NS | 1.3 | AS | c.[91G > A] + [977G > A] | p.[G31S] + [R326Q] | Ex1, Ex 9 | Present study |
| 11 | Japan | − | F | NS | 2.3 | AS | c.[977G > A] + [977G > A] | p.[R326Q] + [R326Q] | Ex 9 | Present study |
| 12 | Japan | − | F | NS | 1.7 | AS | c.[977G > A] + [977G > A] | p.[R326Q] + [R326Q] | Ex 9 | Present study |
| 13 | Japan | − | F | NS | 1.1 | AS | c.[91G > A] + [977G > A] | p.[G31S] + [R326Q] | Ex1, Ex 9 | Present study |
NA = not available, NS = neonatal screening, CT = carrier testing, AS = asymptomatic, MR = mental retardation, MC = microcephaly,
* Patient 5 and 6 are twin siblings. a) indicates same family members (child and mother). b) indicates same family members (two siblings and father)
Biochemical data of patient 1, 2, 4, 5, 6 and 7 were previously reported (Kuhara et al 2009)