A Novel SLCA16A1 Mutation in an Infant with Hypoglycemia and Severe Metabolic Ketoacidosis

The patient was born following a NVD, with a birth weight of 3.2kg. At 3 days of age she presented with hypothermia and acidosis. At 6 months of age, she presented again with vomiting and was biochemically noticed to have hypoglycemia and metabolic acidosis. Family history was significant for consanguinity (first degree cousin parents) Figure 2. The patient has repeated episodes of hypoglycemia and seizures of which an MRI of the head displayed bilateral symmetrical abnormal T2/FLAIR hyperintense white matter signal changes Figure 3.