Glutaric aciduria type 2 (GA-II)
Glutaric aciduria type 2 (GA-II)
Alternative name
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Multiple acyl-CoA dehydrogenase deficiency (MADD)
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About the condition
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GA-II is predominantly a fatty acid oxidation disorder. It is a hereditary disease that is caused by a missing enzyme complex needed to convert fat and some amino acids into energy.
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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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Deficiency of electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETF-DH).
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Symptoms if untreated
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- Hypoglycaemia
- Hyperammonaemia
- Cardiomyopathy
- Polycystic kidneys
- Hepatomegaly
- ‘Sweaty feet’ odour
- Coma and death possible
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Metabolites on bloodspot screening
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Multiple increased acylcarnitines (C4, C5, C5DC, C6, C8, C0, C12, C14, C14:1, C16, C18, and C18:1).
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Diagnostic tests
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- Plasma acylcarnitine profile
- Urine organic acids
- Plasma amino acids
- ETF and ETFDH gene analysis
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Treatment
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- Regulation of dietary fat intake
- Carnitine supplementation
- Riboflavin supplementation
- Avoidance of fasting
- Intervention if hypoglycaemia and/or acidosis
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Screening issues
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Later-onset and milder variants occur.
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