ArticleJIMD reports2026
Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single-Center Cohort.
Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long-term morbidity remains incompletely characterized. We conducted an observational, retrospective, single-center study of patients with FAODs identified through NBS and followed between 2011 and 2024. Clinical, biochemical, genetic, and nutritional data were extracted from medical records. Correlations between biochemical markers, enzymatic activity, and clinical outcomes were analyzed. The study was approved by the Research Committee of the Instituto de Investigación, Hospital 12 de Octubre (Madrid). Sixty-five patients were included: 42 MCADD, 11 VLCADD, 5 LCHADD, 2 CPT1D, 3 CPT2D, 1 CACTD, and 1 MADD. Median age at last follow-up was 7.2 years (range 0.4-13.6). Two patients died during follow-up (overall mortality 3.1%). In MCADD, confirmatory C8 concentrations correlated with residual enzyme activity and metabolic decompensations. In VLCADD, NBS and confirmatory C14:1 levels correlated with enzyme activity but not with clinical severity. VLCADD showed marked clinical heterogeneity, whereas LCHADD patients had the highest disease burden and required the most intensive nutritional management. Overall, 40% of patients experienced at least one metabolic decompensation, occurring significantly more frequently in LC-FAOD than in MCADD. Neuropsychological manifestations were observed in 16.9% of patients. In summary, NBS markedly improves survival in FAODs, but morbidity remains substantial, particularly in LC-FAOD. Current biochemical markers are useful for early risk stratification but remain insufficient to predict long-term clinical severity. These findings support individualized multidisciplinary follow-up, including specialized nutritional care and systematic neuropsychological assessment.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.