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Table 2 Clinical features of TRNT1 deficiency

From: TRNT1 deficiency: clinical, biochemical and molecular genetic features

Clinical feature Total Percent
Symptom/sign
 Recurrent ‘inflammatory’ episodes 14/18 78
 Developmental delay 14/18 78
 Sideroblastic anaemia 13/18 72
 Diarrhoea 8/18 44
 Vomiting 7/18 39
 Sensorineural deafness 7/18 39
 Seizures 7/18 39
 Retinitis pigmentosa 6/18 33
 Splenomegaly 6/18 31
 Ataxia 5/18 28
 Brittle hair 5/18 28
 Hypotonia 5/18 28
 Nephrocalcinosis 5/18 28
 Renal tubulopathy 4/18 22
 Hepatomegaly 4/18 22
 Pancreatic insufficiency 3/18 17
 Villous atrophy 2/18 11
 Acute encephalopathy 2/18 11
 Cardiomyopathy 1/18 6
Laboratory investigations
 Low or low-normal haemoglobin 16/18 89
 Microcytosis 16/18 89
 B lymphopaenia/hypogammaglobulinaemia 12/18 67
 Anisocytosis 9/18 50
 High lactate 6/18 33
 Metabolic acidosis 5/18 28
 High alanine 3/18 17