| HH | Hyperinsulinaemic Hypoglycemia |
| DM | Diabetes Mellitus |
| T2DM | Type 2 Diabetes Mellitus |
| SUR1 | Sulphonylurea receptor 1 |
| KIR6.2 | Inward rectifier potassium channel subunit 2 |
| MCT1 | Monocarboxylate transporter 1 |
| MODY | Maturity-onset diabetes of the young |
| SLC2A2 | Solute carrier family 2 member 2 |
| GWAS | Genome-Wide Association Studies |
| GLUT 2 | Glucose transporter 2 |
| G6P | Glucose-6-phosphate |
| ATP | Adenosine triphosphate |
| ADP | Adenosine diphosphate |
| KATP | ATP-sensitive potassium channels |
| KCNJ11 | Potassium Voltage-Gated Channel Subfamily J Member 11 |
| ABCC8 | ATP-binding cassette subfamily C member 8 |
| KCNH6 | Potassium voltage-gated channel subfamily H member 6 |
| SNP | Single nucleotide polymorphism |
| LQTS | long-QT syndrome |
| CACNA1D | Calcium Voltage-Gated Channel Subunit Alpha1 D |
| CACNA1C | Calcium Channel, Voltage-Dependent, L Type, alpha 1C Subunit |
| SLC16A1 | Solute carrier family 16, member 1 |
| NDM | Neonatal diabetes mellitus |
| TNDM | Transient NDM |
| PNDM | Permanent NDM |
| DEND | Developmental delay and epilepsy syndrome |
| SLC2A2 | Solute carrier family 2 member 2 |
| FBS | Fanconi Bickel syndrome |
| HbA1c | Glycated haemoglobin |
| TRMA | Thiamine-responsive megaloblastic anaemia |
| THTR-1 | Thiamine transporter 1 protein |
| THTR-2 | Thiamine transporter 2 |
| SLC19A2 | The Solute Carrier Family 19 Member 2 |
| SND | Sensorineural deafness |
| ZnT8 | Zinc transporter family member 8 |
| RFC1 | Reduced folate carrier 1 |
| TMP | Thiamine monophosphate |
| TMPase | Thiamine monophosphatase |
| HACL1 | 2-Hydroxyacyl-CoA Lyase 1 |
| TPP | Thiamine pyrophosphate |
| TPPase | Thiamine pyrophosphatase |
| TK-TPP | Transketolase-Thiamine pirophosphate |
| TPK | Thiamine pyrophosphokinase |
| TDP | Thiamine diphosphate |