Hydroxymethylglutaric aciduria
Hydroxymethylglutaric aciduria
Alternative names
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- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- HMG-CoA lyase deficiency
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About the condition
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Hydroxymethylglutaric aciduria is an organic acid disorder. It is a hereditary disease that is caused by a missing enzyme needed to convert protein into energy. There is also failure to produce ketone bodies.
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Inheritance
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Autosomal recessive
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Year screening started in WA
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2005 |
Incidence in Australia
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Currently unknown
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Enzyme defect
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Deficiency of HMG-CoA lyase, which catalyses the final step of leucine degradation and plays a role in ketone formation.
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Symptoms if untreated
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- Hypoketotic hypoglycaemia
- Metabolic acidosis
- Vomiting
- Lethargy, hypotonia
- Apnoea, seizures
- Hepatomegaly
- Coma and death possible
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Metabolites on bloodspot screening
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Increased hydroxymethylglutarylcarnitine (C5MeDC) and hydroxyisovalerylcarnitine (C5OH).
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Diagnostic tests
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- Plasma acylcarnitine profile
- Urine organic acids
- HMGCL gene analysis
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Treatment
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- High-carbohydrate, low-protein diet
- Carnitine supplementation
- Avoidance of fasting
- IV glucose during crisis episodes
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Screening issues
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None
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