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 |