Videre diagnostisk utredning.pdf - Oslo universitetssykehus
Videre diagnostisk utredning.pdf - Oslo universitetssykehus
Videre diagnostisk utredning.pdf - Oslo universitetssykehus
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Lysine Tryptophan Hydroxylysine<br />
Glutarylcarnitine<br />
Glutarsyreuri type 1<br />
2-oxoadipin<br />
Glutaryl-CoA<br />
Crotonyl-CoA<br />
3-hydroxybutyryl-CoA<br />
Acetoacetyl-CoA<br />
Glutaric acid<br />
Glutaconyl-CoA 3-OH-Glutaric acid<br />
• Nyfødtscreening: C5DCcarnitn<br />
• Urinstix, P-kreatinin<br />
• Oppfølgende analyser:<br />
– U- organiske syrer: glutarsyre,<br />
3-OH-glutarsyer ↑<br />
– S-carnitin,tot ↓, fri: ↓<br />
– P-Acylcarnitiner: C5DCcarnitin<br />
↑<br />
– Sekvensering GCDH-genet<br />
NB! Maternell Ga1
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