| HH | hyperinsulinaemic hypoglycaemia |
| ABCC8 | ATP-Binding Cassette Subfamily C Member 8 |
| KCNJ11 | Potassium Inwardly-Rectifying Channel Subfamily J Member 11 |
| GLUD1 | Glutamate Dehydrogenase 1 |
| GCK | Glucokinase |
| HADH | Hydroxyacyl-CoA Dehydrogenase |
| SLC16A1 | Solute Carrier Family 16 Member 1 |
| MCT-1 | Monocarboxylate Transporter Subtype 1 |
| UCP2 | Uncoupling Protein 2 |
| HNF4A | Hepatocyte Nuclear Factor 4A |
| HNF1A | Hepatocyte Nuclear Factor 1A |
| HK1 | Hexokinase 1 |
| PGM1 | Phosphoglucomutase 1 |
| PMM2 | Phosphomannomutase 2CHI–Congenital hiperinsulinism |
| GLUT-2 | Glucose Transporter 2SUR1–Sylfonylourea Receptor 1 |
| CHH | Congenital Hyperinsulinaemic Hypoglycaemia |
| (18)F-DOPA PET | Fluorine-18-dihydroxyphenyloalanine Positron Emission Tomography |
| CT | Computed Tomography |
| SSTR2 | somatostatin receptor 2 |
| SSTR5 | somatostatin receptor 5 |
| QoL | Quality of Life |
| mTOR | mammalian Target of Rapamycin |
| GLP-1 | Glucagon-like peptide-1 |
| HRQoL | Health-related quality of life |
| CAH | Congenital adrenal hyperplasia |
| MS-MLPA | Methylation-specific multiplex ligation-dependent probe amplification |
| WES | Whole exome sequencing |
| PHHI | Persistent hyperinsulinaemic hypoglycaemia of infancy |
| CGM | Continuous glucose monitoring |
| FGM | Flash glucose monitoring |