Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene
Tingyu Li, Tianyi Liu, Lujuan Li, Yang Liu, Qi Zhang, Xian Cheng, Zhong Li · 2026
Read Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene by Tingyu Li, Tianyi Liu, Lujuan Li, Yang Liu, Qi Zhang, Xian Cheng, Zhong Li (2026) 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/PMC13279447.txt.
Description
Tingyu Li and colleagues report a 2026 case of a newborn with a rare hormone and ammonia disorder. The syndrome joins too much insulin, which drops blood sugar, with high blood ammonia. It stems from faults in the GLUD1 gene, which codes a key enzyme in insulin cells. Their patient fell ill just forty three hours after birth.
The baby had severe low blood sugar and seizures, a classic start for the syndrome. Blood tests showed the paired pattern of excess insulin and raised ammonia without symptoms from the ammonia itself. The child responded well to diazoxide, a drug that curbs insulin release. Gene tests found a new missense change, a single letter swap, in the gene form and proved the diagnosis. New gene finds widen the map for fast newborn diagnosis.
Catalog record
| CREATOR | Tingyu Li, Tianyi Liu, Lujuan Li, Yang Liu, Qi Zhang, Xian Cheng, Zhong Li |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 24936 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |