Maple syrup urine disease: branched-chain keto-aciduria.

A case of maple syrup urine disease is presented. The patient lived for 20 months, the longest survival so far reported. There were increased amounts of leucine, isoleucine and valine in plasma and urine, indicating a block in the metabolic degradation of these amino acids. There was an accumulation in the urine of the respective keto acids, but not of the aldehydes or of the simple acids. This locates the block at a step common to all three amino acids, that of oxidative-decarboxylation. The alpha-hydroxy-acid derivatives of these amino acids are probably present, but the evidence is still incomplete. Animal experiments indicate that oxidative decarboxylation of the branched-chain amino acids is a metabolic step which is found generally in tissues, including leukocytes but probably not erythrocytes.

• Publication year

  1960

• Venue

  Pediatrics

• Publication date

  1960-01-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1542/peds.25.1.72PMID 13813934
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  1956cited by this paper
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  1954cited by this paper
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  1954cited by this paper
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  1954cited by this paper
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  2012cites this paper
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  2011cites this paper
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  2008cites this paper
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  2008cites this paper
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  2008cites this paper
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  2006cites this paper
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  2006cites this paper
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• [Simple and rapid determination of leucine by HPLC. Importance for extra-renal treatment of maple syrup urine disease].

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  1971cites this paper
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  1968cites this paper
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