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 |