Skip to main content

Table 1 Clinical findings at diagnosis in clinically-detected and screen-detected patients with type 1 tyrosinemia

From: Type 1 tyrosinemia in Finland: a nationwide study

  Clinically-detected, n = 18 Screen-detected, n = 4 P value
n % n %
Symptoms      
Fever 9 50.0 0 0 0.115
Recurrent vomiting 7 38.9 0 0 0.263
Melena/haematochezia 5 27.8 0 0 0.535
Diarrhoea 4 22.2 0 0 0.554
Clinical findings      
Liver failure 18 100.0 2 50.0 0.026
Growth failure 12 66.6 0 0 0.029
Kidney tubulopathy 11a 64.7 0 0 0.035
Jaundice 1 5.6 0 0 0.999
Laboratory findings      
Thrombocytopenia 15a 88.2 1 25.0 0.028
Metabolic acidosis 12b 75.0 1 25.0 0.101
Hypoglycaemia 9 50.0 2 50.0 0.999
Anaemia 8a 47.1 0 0 0.131
No symptoms or findings 0 0 1 25.0 0.182
  1. aData missing for 1 patient
  2. bData missing for 2 patients