Primary carnitine deficiency (PCD)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Primary carnitine deficiency (PCD). This is caused by mutations in the SLC22A5 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the SLC22A5 gene
- The gene encodes organic cation transporter type 2 (OCTN2)
- The transmission is autosomal recessive
Systemic features
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Cardiac features
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Neurological features
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Baseline investigations
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Differentials: causes of secondary carnitine deficiency
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Treatment
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References
- Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis 2012; 7:68.
- Liang WC, Nishino I. Lipid storage myopathy. Curr Neurol Neurosci Rep 2011; 11: 97-103.
- Crefcoeur LL, Visser G, Ferdinandusse S, Wijburg FA, Langeveld M, Sjouke B. Clinical characteristics of primary carnitine deficiency: a structured review using a case-by-case approach. J Inherit Metab Dis 2022; 45:386-405.
- Khries M, Lim A, Mitra D, et al. Broadening the spectrum of SLC22A5 phenotype: primary carnitine deficiency presenting with focal myoclonus. Child Neurol Open 2023; 10:2329048X231184183.
- Uppin MS, Sundaram C, Meena AK, et al. Lipid storage myopathies with unusual clinical manifestations. Neurol India 2008; 56:391-393.
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