Isovaleriansyremi


Engelsk navn: Isovaleric acidemia
Engelske synonym: Isovaleric acid CoA dehydrogenase deficiency


Definisjon

A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.

Fra Orphanet

ORPHA: 33
Klassifiseringsnivå: Disorder
ICD-10: E71.1

Mer informasjon


Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)

Ressurser (15)

Skjermbilde: Webinar series epnet 2021
  |  1 time

Porphyria cutanea tarda – the basics

In these webinars, you will learn when to suspect, how to diagnose and how to treat the porphyrias with the support of case histories. The webinars are aimed at clinicians and specialists in laboratory medicine who are not experts in porphyria.

  |  22 min

Idiopatisk hypersomni – en innføring

Idiopatisk hypersomni kjennetegnes ved en kronisk søvnighet på dagtid, uimotståelig behov for å måtte sove på dagtid, og ofte store vansker med å våkne om morgenen eller etter en sovepause.