Genomic sequencing and the urgency of early diagnosis in inborn errors of metabolism
K Taylor Wild, Nancy B Spinner · 2026
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Description
K Taylor Wild and Nancy B Spinner argued for faster genetic diagnosis of inborn errors of metabolism in newborns. Published in 2026, the commentary responds to a study that used exome sequencing to solve three methylmalonic acidemia cases and four CBS deficiency cases in Pakistan, a country without population-wide newborn screening. Such disorders can bring severe disability, yet many are treatable if caught early.
The catch is timing: diagnoses in that study arrived at ages one to fourteen, too late to prevent much harm. Early treatment can cut metabolic crises and deaths in one disorder and prevent intellectual disability entirely in the other. The authors note pilot sequencing programs in several countries and argue that genome sequencing, now possible within hours to days, should join biochemical screening. Readers get an urgency case for catching treatable disorders before symptoms lock in.
Catalog record
| CREATOR | K Taylor Wild, Nancy B Spinner |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 8 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |