Description |
A rare genetic endocrine disease characterised by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinaemic (or hypo ketotic hypo-fatty-acidaemic) hypoglycaemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13. |