Disease spectrum and genetic profile of high-risk children with severe carnitine deficiency.

Authors

Jing Liu, Zhenhua Xie, Mengjun Xiao, Xian Li, Qiang Zhang, Zhenkun Zhang, Yaodong Zhang, Yongxing Chen, Haiyan Wei, Dongxiao Li

Published in

Pediatrics and neonatology. Sep 18, 2026. Epub Sep 18, 2026.

Abstract

Severe free carnitine deficiency (C0 ≤5 μmol/L) is frequently observed in pediatric patients suspected of primary carnitine deficiency (PCD), though confirmed diagnoses remain rare. This study aimed to analyze the disease spectrum and genetic profile of high-risk children with severe reduced carnitine levels and to enable targeted treatment.
We retrospectively analyzed blood acylcarnitine profiles (ACP), urine organic acids, genetic results, and clinical features of high-risk pediatric patients with significantly low C0 levels, which led to a diagnosis.
Among 56 high-risk patients with C0 levels below 5 μmol/L, 19 were diagnosed with inherited metabolic diseases (IMD): 7 cases of PCD and 12 other metabolic disorders. Three novel genetic variants across three genes were identified, which had not been previously reported. Notably, one patient with PCD also had methylmalonic acidemia, and three IMD patients exhibited characteristic metabolic markers of their conditions only after levocarnitine supplementation. Among the 37 non-IMD cases, critical condition with perinatal multi-organ dysfunction and refractory epilepsy or diarrhea-associated convulsions were the predominant etiologies.
Severe C0 deficiency in high-risk children is primarily caused by non-genetic factors. Additionally, in some non-PCD fatty acid oxidation disorders, extremely low free carnitine levels may mask primary disease markers, increasing the risk of misdiagnosis. Timely follow-up blood ACP after l-carnitine supplementation, combined with urinary organic acid analysis and genetic testing, is crucial for early diagnosis and therapeutic monitoring.

PMID:
42838858
Bibliographic data and abstract were imported from PubMed on 07 Oct 2026.

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