Abstract
Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. DNA analysis showed a novel mutation in the gene encoding mevalonate kinase.
MeSH terms
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DNA Mutational Analysis
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Fatal Outcome
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Female
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Genotype
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Humans
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Infant, Newborn
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Infant, Premature, Diseases / genetics*
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Infant, Very Low Birth Weight / physiology*
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Male
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Metabolism, Inborn Errors / genetics*
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Mevalonic Acid / urine*
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Mutation / genetics
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Phosphotransferases (Alcohol Group Acceptor) / genetics*
Substances
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Phosphotransferases (Alcohol Group Acceptor)
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mevalonate kinase
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Mevalonic Acid