Carnitine palmitoyl transferase (CPT II) deficiency: management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Carnitine palmitoyl transferase (CPT II) deficiency: management. Long chain acylcarnitines: the levels are increased. Fully referenced neurology checklist.
Blood tests
- Long chain acylcarnitines: the levels are increased
- Creatinine kinase (CK): this is normal between attacks
Mutations in blood cells
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Muscle biopsy
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Treatment
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Synonym
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References
- Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency. Clinical and molecular generic features and diagnostic aspects. Arch Neurol 2005; 62:37-41.
- Wieser T, Deschauer M, Olek K, Hermann T, Zierz S. Carnitine palmitoyltransferase II deficiency. Molecular and biochemical analysis of 32 patients. Neurology 2003; 60:1351-1353.
- Liang WC, Nishino I. State of the art in muscle lipid diseases. Acta Myologica 2010; 29:351-356.
- Bertorini TE. Neuromuscular Case Studies. Butterworth Heinemann Philadelphia 2008 pp541-543.
