Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency.
Better blood tests can now catch a rare, treatable liver disorder in newborns that was previously missed by standard screening.
Novel amino acid ratio combinations significantly outperform citrulline alone for diagnosing citrin deficiency (SLC25A13 mutations) in neonatal intrahepatic cholestasis, improving the sensitivity of newborn screening for this treatable but often missed inborn error of metabolism. This diagnostic algorithm refinement is directly implementable in existing metabolic newborn screening platforms.
What the study was
- Study design
- retrospective diagnostic accuracy study
- Population
- Neonates with intrahepatic cholestasis evaluated for citrin deficiency
- Category
- Diagnostics
- Maturity
- Exploratory
- Journal
- Molecular genetics and metabolism
Why it surfaced
Novel diagnostic algorithm for citrin deficiency, a rare treatable neonatal metabolic disorder where early diagnosis is critical; directly actionable for newborn screening programs; identified via both T9 watchlist and sentinel scan.
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