Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene
Leila Salikhovna Sozaeva, Sabina Kalandarovna Ismailova, Irina Yurievna Chernyak, Sergey Vladimirovich Popov, Victoriya Vitalievna Zakharova, Igor Sergeevich Chugunov · 2024
Read Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene by Leila Salikhovna Sozaeva, Sabina Kalandarovna Ismailova, Irina Yurievna Chernyak, Sergey Vladimirovich Popov, Victoriya Vitalievna Zakharova, Igor Sergeevich Chugunov (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11630036.txt.
Description
Leila Sozaeva and co-authors report a family with mild congenital hyperinsulinism from a glucokinase gene variant in a 2024 paper. The disease makes the body release too much insulin, causing dangerous low blood sugar in infants and adults. Activating variants in the glucokinase gene are one cause, and severity varies widely between families.
The case concerns a forty-one-year-old mother and her young child carrying a novel variant in the gene. Both showed a mild course of the disease. Documenting mild familial cases helps doctors recognize the condition when it appears softly rather than as a newborn emergency.
Catalog record
| CREATOR | Leila Salikhovna Sozaeva, Sabina Kalandarovna Ismailova, Irina Yurievna Chernyak, Sergey Vladimirovich Popov, Victoriya Vitalievna Zakharova, Igor Sergeevich Chugunov |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 18 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |