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Table 1 Clinical features and outcomes of the various urea cycle disorders

From: Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

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
  1. ASS1-D Argininosuccinate synthetase type 1 deficiency, ASL-D Argininosucccinate lyase deficiency, OTC-D Ornithine transcarbamylase deficiency, ARG-D Arginase deficiency, CPS1-D CPS1 deficiency, NAGS-D N-acetyl glutamate synthase deficiency, Citrin-D Citrin deficiency, LPI Lysinuric protein intolerance
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172