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Alternative name
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Propionyl-CoA carboxylase (PCC) deficiency
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About the condition
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PA is an organic acid disorder. It is a hereditary disease that is caused by a missing enzyme needed to convert protein into energy.
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Inheritance
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Autosomal recessive
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| Year screening started in WA |
2005 |
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Incidence in Australia
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Currently unknown
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Enzyme defect
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- Deficiency of the enzyme propionyl-CoA carboxylase
- May be seen as part of multiple carboxylase deficiency
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Symptoms if untreated
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- Episodic ketoacidosis
- Hyperammonaemia
- Vomiting, feeding problems
- Cytopaenia
- Cardiomyopathy
- Seizures, intellectual diasability
- Coma and death possible
- Later-onset and milder forms occur
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Metabolites on bloodspot screening
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- Increased propionylcarnitine (C3)
- Increased methylcitrate (second-tier test)
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Diagnostic tests
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- Plasma acylcarnitine profile
- Urine organic acids
- PCCA and PCCB gene analysis
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Treatment
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- Low-protein diet
- Carnitine supplementation
- Biotin supplementation
- Avoidance of fasting
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Screening issues
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None
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