Here I present: “Hyperinsulinaemic hypoglycemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HH) 高胰島素血癥低血糖。icd10=E16.1
INTRODUCTION.
Hyperinsulinaemic hypoglycemia (HH) describes the condition and effects of low blood glucose caused by excessive insulin’. Hypoglycemia due to excess insulin’ is the most common type of serious hypoglycemia. It can be due to endogenous or injected insulin’.
Glucose is one of the principal energy substrates, providing half of the body’s total energy requirements. As the brain can neither synthesize nor store more than a few minutes supply of glucose, its function is solely dependent on maintenance of normal glucose concentrations in the circulation. An abnormally reduced concentration of glucose in the blood is referred to as hypoglycemia. It is a medical emergency and can lead to symptoms due to neuroglycopenia.
There is evidence that hyperinsulinemic hypoglycemia type-3 is caused by heterozygous mutation in the glucokinase gene (GCK) on cytogenetic location 7p13 and genomic coordinates 7:44,143,213-44,189,439. The screenshot of the GCK gene 46,227 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GCK in the 7p13 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:44,072,062 | POLM | Polymerase, DNA, mu |
| 7:44,104,345 | AEBP1 | AE-binding protein 1 |
| 7:44,114,680 | POLD2 | Polymerase (DNA directed), delta 2 |
| 7:44,138,864 | MYL7 | Myosin, light chain 7, regulatory |
| 7:44,143,213 | GCK | Glucokinase (hexokinase-4) |
| 7:44,200,978 | YKT6 | YKT6 v-SNARE homolog |
| 7:44,217,154 | CAMK2B | Calcium/calmodulin-dependent protein kinase II-beta |
| 7:44,379,119 | NUDCD3 | NUDC domain-containing protein 3 |
| 7:44,512,535 | NPC1L1 | NPC1-like intracellular cholesterol transporter 1 |
| 7:44,565,804 | DDX56 | DEAD-box helicase 56 |
