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Videre diagnostisk utredning.pdf - Oslo universitetssykehus

Videre diagnostisk utredning.pdf - Oslo universitetssykehus

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Isovaleriansyreemi<br />

• Nyfødtscreening:<br />

C5-carnitn<br />

• P-glucose, ammoniakk,<br />

elektrolytter, S/B, laktat,<br />

U- stix<br />

• Oppfølgende analyser:<br />

– U-organiske syrer<br />

• Isovalerylglycin, 3-OH-<br />

Isovalerylglycin ↑<br />

– S-carnitin, fritt + totalt ↓<br />

– P-acylcarnitiner<br />

• Isovalerylcarnitin ↑

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