A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome
Magdalena Bartnik, Weronika Pawlik, Beata Burzyńska, Konrad Wasilewski, Elżbieta Kamieńska, Tomasz Urasiński · 2024
Read A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome by Magdalena Bartnik, Weronika Pawlik, Beata Burzyńska, Konrad Wasilewski, Elżbieta Kamieńska, Tomasz Urasiński (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-11675319.txt.
Description
A rare inherited fault in the hexokinase gene leaves red blood cells short of energy, so they break down too fast. Magdalena Bartnik and co-authors tell, in a 2024 case report, the story of a ten-year-old girl with weakness, fatigue, and yellowing skin. She also carried the gene pattern for Gilbert syndrome, a mild liver condition.
Blood work showed her hexokinase level sat below the normal range. Deep gene sequencing then found a new change in exon 7 of the gene, one never recorded before. The team also reviewed the roughly 37 cases of this deficiency reported worldwide. Their report widens the known list of faults and shows how two yellow-skin conditions can hide in one child.
Catalog record
| CREATOR | Magdalena Bartnik, Weronika Pawlik, Beata Burzyńska, Konrad Wasilewski, Elżbieta Kamieńska, Tomasz Urasiński |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 17 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |