Carnitine palmitoyl transferase (CPT II) deficiency: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Carnitine palmitoyl transferase (CPT II) deficiency: clinical features. This is the commonest familial cause of myoglobinuria.
Epidemiology and pathology
- This is the commonest familial cause of myoglobinuria
Onset types
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Clinical features
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Common triggers for attacks
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Uncommon triggers for attacks
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Differential diagnosis: McArdle’s disease
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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.
