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Debut af arvelig metabolisk encefalopati kan ses efter neonatalperioden

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Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder causing accumulation of the branched amino acids valin, isoleucin, leucin and their toxic metabolites resulting in ketoacidosis, progressive neurological deterioration and cerebral oedema. The classical form presents in the first days of life. In contrast, the intermittent form of MSUD presents later in childhood and is difficult to diagnose biochemically. Clinical awareness is important due to high mortality if not treated. We here present two cases with late-onset intermittent MSUD.

Translated title of the contributionOnset of hereditary metabolic encephalopathy can be seen after the neonatal period
Original languageDanish
JournalUgeskrift for Laeger
Volume178
Issue number22
Pages (from-to)V12151013
ISSN0041-5782
Publication statusPublished - 30 May 2016

    Research areas

  • English Abstract, Journal Article

ID: 49590663