Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling
Daniel R. Schecter, Colleen Donnelly, Amy White, Hillary Raynes, Gordon Heller, Deepa Rajan, Carlos A. Saavedra-Matiz, Joseph Orsini, Jaap-Jan Boelens, Dietrich Matern, Jaya Ganesh · 2026
Read Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling by Daniel R. Schecter, Colleen Donnelly, Amy White, Hillary Raynes, Gordon Heller, Deepa Rajan, Carlos A. Saavedra-Matiz, Joseph Orsini, Jaap-Jan Boelens, Dietrich Matern, Jaya Ganesh (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/PMC13510908.txt.
Description
Schecter and colleagues reported in 2026 a case of late-infantile Krabbe disease found through newborn screening. This inherited disease destroys nerve insulation when an enzyme called GALC fails, letting a toxin called psychosine build up. Screening flagged the baby, whose gene carried two copies of a mixed haplotype. A haplotype means a set of variants carried on one gene copy. It included a so-called pseudodeficiency change plus a modifier that can amplify harm.
Schecter describes how the child developed normally at first, yet scans showed growing white matter damage by age three and three-quarters. Psychosine in red blood cells also rose well above the control range. Doctors then gave a cord blood transplant, after which enzyme activity normalised, toxin levels fell, and scans stayed stable with no loss of skills by age nine. The case shows screening results need gene, toxin, enzyme, and scan evidence read together.
Catalog record
| CREATOR | Daniel R. Schecter, Colleen Donnelly, Amy White, Hillary Raynes, Gordon Heller, Deepa Rajan, Carlos A. Saavedra-Matiz, Joseph Orsini, Jaap-Jan Boelens, Dietrich Matern, Jaya Ganesh |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 22 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |