TRNT1 deficiency: clinical, biochemical and molecular genetic features

Table 2 Clinical features of TRNT1 deficiency

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

ISSN: 1750-1172