Carnitine palmitoyltransferase deficiency type 1 (CPT-I)
Carnitine palmitoyltransferase deficiency type 1 (CPT-I)
Alternative name
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Hepatic carnitine palmitoyltransferase deficiency, type I
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About the condition
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CPT-I 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 hypoglycaemia and liver disease.
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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 CPT1A gene, which encodes carnitine palmitoyltransferase IA, an enzyme that participates in long-chain fatty acid oxidation.
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Symptoms if untreated
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- Hypoketotic hypoglycaemia
- Hyperammonaemia
- Hepatomegaly
- Renal tubular acidosis
- Coma and death possible
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Metabolites on bloodspot screening
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- Increased free carnitine (C0)
- Decreased long-chain acylcarnitines (C16 and C18)
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Diagnostic tests
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- Plasma acylcarnitine profile
- Urine organic acids
- CPT1A gene analysis
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Treatment
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- Dietary restriction of long-chain fatty acids
- Medium chain triglyceride supplementation
- Cornstarch supplementation
- Avoidance of fasting
- IV glucose during illness
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Screening issues
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There are milder variants in some populations of unknown clinical significance.
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