Types of UCD | ASS1-D | ASL-D | OTC-D | ARG-D | CPS1-D | NAGS-D | Citrin-D | LPI | Total |
---|---|---|---|---|---|---|---|---|---|
Total Numbers | 61 | 20 | 26 | 9 | 3 | 2 | 1 | 1 | 123 |
Consanguinity | 9 (n = 54) | 7 (n = 19) | 2 (n = 25) | 5 (n = 9) | 1 (n = 2) | 1 (n = 2) | 0 (n = 1) | 1 (n = 1) | 26 (n = 113) |
Positive family history | 14 (n = 56) | 9 (n = 20) | 12 (n = 24) | 2 (n = 9) | 0 (n = 3) | 1 (n = 1) | 0 (n = 1) | 0 (n = 1) | 38 (n = 115) |
Age group | |||||||||
Neonatal | 44 | 13 | 11 | 0 | 2 | 2 | 0 | 0 | 72 |
Infancy | 6 | 3 | 4 | 0 | 0 | 0 | 0 | 0 | 13 |
> Infancy (> 1 year) | 11 | 4 | 11 | 9 | 1 | 0 | 1 | 1 | 38 |
Clinical presentation | |||||||||
Neonatal or intermittent encephalopathy, or seizures | 51 | 17 | 19 | 0 | 3 | 1 | 0 | 1 | 92 |
Liver disease (deranged liver enzymes) | 6 | 5 | 2 | 0 | 0 | 0 | 0 | 0 | 13 |
Failure to thrive | 3 | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 7 |
Developmental delay | 6 | 5 | 7 | 9 | 0 | 0 | 0 | 0 | 27 |
Other neuropsychiatric/ behavioural/ ataxia/ spasticity symptoms | Nil | 0 | 4 | 6 | 1 | 0 | 1 | 0 | 12 |
Mutations performed | 55 | 16 | 22 | 5 | 3 | 2 | 1 | 1 | 105 |
Results obtained | 55 | 15 | 18 | 5 | 3 | 2 | 1 | 1 | 100 |
Outcome | |||||||||
Death | 44 | 12 | 11 | 0 | 1 | 2 | 0 | 0 | 70 |
Alive | 10 | 5 | 14 | 8 | 1 | 0 | 1 | 1 | 40 |
Development: Delayed | 7 | 5 | 7 | 8 | 1 | 0 | 0 | 0 | 28 |
Development: Normal or near normal | 2 | 1 | 7 | 0 | 0 | 0 | 1 | 1 | 12 |
Diet -Protein restriction+ medications | 6 | 5 | 10 | 8 | 1 | 0 | 0 | 1 | 31 |
Lost to follow up/ not known | 7 | 3 | 1 | 1 | 1 | 0 | 0 | 0 | 13 |