Abstract
A late-onset case of propionic acidaemia with favourable response to restriction of dietary protein is described. During a keto-acidotic crisis, this patient demonstrated unexpectedly low concentrations of propionic acid and glycine in blood and urine but increased urinary output of some secondary metabolites.
MeSH terms
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Acidosis / metabolism*
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Amino Acid Metabolism, Inborn Errors
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Carbon-Carbon Ligases*
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Female
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Glycine / analogs & derivatives
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Glycine / blood
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Glycine / urine
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Humans
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Hydroxybutyrates / urine
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Infant
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Ketosis / metabolism
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Ligases / deficiency*
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Propionates / blood*
Substances
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Hydroxybutyrates
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Propionates
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tiglylglycine
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2-methyl-3-hydroxybutyric acid
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Ligases
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Carbon-Carbon Ligases
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propionyl CoA carboxylase (ATP-hydrolyzing)
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propionic acid
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Glycine