Non-type 1 and non-type 2 diabetes in a young man due to novel mutation in HNF1A

Yi-Chen Liu, Sheng-Chiang Su, Feng-Chih Kuo, Yi-Jen Hung, Yen-Lin Chen · 2025

Read Non-type 1 and non-type 2 diabetes in a young man due to novel mutation in HNF1A by Yi-Chen Liu, Sheng-Chiang Su, Feng-Chih Kuo, Yi-Jen Hung, Yen-Lin Chen (2025) 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-12718537.txt.

Description

Yi-Chen Liu and four co-authors report an unusual diabetes case in this 2025 paper. A young man had high blood sugar and sugar in his urine. Yet his illness fit neither type 1 nor type 2 diabetes. He also had no sign of the dangerous acid buildup seen in type 1.

His family history showed diabetes starting early in life, a pattern that points to a single gene form of the disease. Genetic testing found a new, never before reported harmful change in the HNF1A gene, which causes one such form. Treatment with a GLP-1 drug plus metformin cut his long term blood sugar measure from 10.2 percent to 6.0 percent within three months. The case argues for gene testing in early onset diabetes, which is often mislabeled.

Catalog record

CREATORYi-Chen Liu, Sheng-Chiang Su, Feng-Chih Kuo, Yi-Jen Hung, Yen-Lin Chen
YEAR2025
COLLECTIONPAPERS
FORMATTXT
FILE SIZE20 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC12718537

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