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Alternative names
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- Malonyl-CoA decarboxylase deficiency, malonic aciduria
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About the condition
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Malonic acidaemia is an organic acid disorder. It is a hereditary disease that is caused by a missing enzyme involved in lipid metabolism.
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Inheritance
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Autosomal recessive
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| Year screening started in WA |
2025 |
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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 malonyl-CoA decarboxylase deficiency, which is involved in lipid metabolism |
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Symptoms if untreated
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- Cardiomyopathy
- Developmental delay
- Seizures
- Hypotonia
- Hypoglycaemia
- Metabolic acidosis
- Diarrhoea
- Vomiting
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Metabolites on bloodspot screening
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Increased malonylcarnitine (C3DC)
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Diagnostic tests
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- Plasma acylcarnitine profile
- Urine organic acids
- MLYCD gene analysis
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Treatment
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- Frequent feeding, avoidance of fasting
- Low-fat high-carbohydrate diet
- Carnitine supplementation
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Screening issues
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None |