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 |