Carnitine palmitoyltransferase deficiency type 2 (CPT-II)
Carnitine palmitoyltransferase deficiency type 2 (CPT-II)
Alternative name
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Carnitine palmitoyltransferase deficiency, type II
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About the condition
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CPT-II deficiency is a long-chain fatty acid oxidation disorder. It is a hereditary disease that is caused by a missing enzyme needed to convert fat into energy. It is usually associated with cardiomyopathy and liver disease. Later-onset and milder variants may cause muscle disease only.
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Inheritance
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Autosomal recessive
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Year screening started in WA |
2005 |
Incidence in Australia
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Currently unknown
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Enzyme defect
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Caused by defects in the CPT2 gene, which encodes carnitine palmitoyltransferase II, an enzyme that participates in long-chain fatty acid oxidation.
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Symptoms if untreated
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- Hypoketotic hypoglycaemia
- Cardiomyopathy, arrhythmia
- Renal malformations
- Hepatomegaly
- Coma and death possible
- Adult form with skeletal myopathy only
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Metabolites on bloodspot screening
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- Increased long-chain acylcarnitines (C16 and C18:1)
- Increased (C16+C18:1)/C2 ratio
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Diagnostic tests
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- Plasma acylcarnitine profile
- Urine organic acids
- Lymphocyte CPT2 enzymology
- CPT2 gene analysis
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Treatment
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- Medium chain triglyceride supplementation
- Carnitine supplementation
- Cornstarch supplementation
- Avoidance of fasting
- IV glucose during illness
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Screening issues
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Even with treatment, the severe infantile form of CPT-II may be fatal.
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