Debut af arvelig metabolisk encefalopati kan ses efter neonatalperioden

Line Carøe Sørensen, Shazia Rehman, Allan Meldgaard Lund

Abstract

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.

Bidragets oversatte titelOnset of hereditary metabolic encephalopathy can be seen after the neonatal period
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind178
Udgave nummer22
Sider (fra-til)V12151013
ISSN0041-5782
StatusUdgivet - 30 maj 2016

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