ESPE Abstracts

Exercise-induced hyperinsulinism is a hypoglycaemic disorder characterised by inappropriate insulin secretion following anaerobic exercise. Activating promoter mutations in the MCT1 gene (SCLA16A1), located on 1p13 coding for monocarboxylate transporter 1 (MCT1), is shown to associate with EIHI. A 2 year old girl presented with hypoglycaemic seizures following a brief period of viral illness with reduced oral intake. Investigations revealed non ketotic hypoglycaemia with a blo...

Vitamin D dependent rickets type 1A (VDDR-1A) is a very rare autosomal recessive disorder caused by mutations in the CYP27B1, which encodes vitamin D 1α-hydroxylase. A study was conducted to understand the clinical and genetic profile of patients with 1 alpha hydroxylase deficiency.Method: A retrospective evaluation of the clinical presentation, treatment and genetic profile of patients diagnosed with 1 alpha hydroxylase deficiency...