" /> Carnitine biosynthesis intermediates panel:-:Pt:Urine:-: - CISMeF





Preferred Label : Carnitine biosynthesis intermediates panel:-:Pt:Urine:-:;

LOINC status : ACTIVE;

LOINC display name : Carnitine biosynthesis intermediates panel (U);

LOINC long common name : Carnitine biosynthesis intermediates panel - Urine;

LOINC short name : Carnitine biosynthesis Panel Ur;

LOINC description : The carnitine biosynthesis intermediates panel in DBS is performed for the diagnosis of carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a disorder of carnitine metabolism that is associated with autism.;

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29/07/2025


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