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Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes.
Eymen Pınar1, Tanyel Zubarioglu2, Hanım Babazade2
1Department of Pediatrics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.
Summary
Primary systemic carnitine deficiency (CDSP) is a rare genetic disorder. Early carnitine supplementation and family screening are vital for preventing severe complications and improving outcomes in CDSP patients.
Area of Science:
- Genetics
- Metabolic Disorders
- Biochemistry
Background:
- Primary systemic carnitine deficiency (CDSP) is a rare inherited metabolic disorder caused by SLC22A5 gene mutations.
- It impairs mitochondrial fatty acid oxidation, leading to severe health complications.
- Turkey's lack of national screening delays diagnosis and worsens outcomes.
Purpose of the Study:
- To investigate the clinical, biochemical, and molecular characteristics of CDSP in Turkey.
- To highlight the impact of delayed diagnosis due to limited newborn screening.
- To assess the effectiveness of carnitine supplementation.
Main Methods:
- Retrospective analysis of 12 patients from eight families (2003-2025).
- Collected data on family history, consanguinity, clinical symptoms (cardiomyopathy, muscle weakness, neurological, liver dysfunction), plasma carnitine levels, and echocardiography.
- Analyzed clinical, biochemical, and molecular profiles.
Main Results:
- Most patients (92%) were from consanguineous families.
- Cardiomyopathy (75%) and muscle weakness (50%) were prevalent clinical features.
- A novel SLC22A5 variant (p.Leu42Pro) was identified; carnitine therapy improved carnitine levels and cardiac measurements. Cholestasis was observed in two patients.
Conclusions:
- Early detection and family screening are crucial for preventing life-threatening CDSP complications.
- Long-term carnitine therapy improves metabolic and cardiac outcomes.
- CDSP should be included in national newborn screening programs for early intervention.
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