C5-OH acylcarnitine

Long Description: A flowchart is shown. Two arrows emerge from an oval reading “Elevated C5-OH”. The first points to the right, to a shaded oval reading “Routine Labs: Glucose, electrolytes, blood gas, ammonia”. A double dagger appears before those words. The second arrow points down, to a shaded oval reading, “Assay: Urine OA; Plasma AC”. From that oval seven arrows emerge. The first points to an oval reading “Plasma C5-OH: high; Urine OA: MCC”, from which an arrow points to an oval reading “S-MCC”. The second points to an oval reading “Plasma C5-OH: high; Urine OA: HMG-CoA lyase”, from which an arrow points to an oval reading “HMG-CoA; Lyase Deficiency”. The third points to an oval reading “Plasma C5-OH: high; Urine OA: BKT”, from which an arrow points to an oval reading “Beta-ketothialase deficiency”. The fourth points to an oval reading “Plasma C5-OH: high; Urine OA: MHBD”, from which an arrow points to an oval reading “2M3HBA(MHBD) deficiency”. The fifth points to an oval reading “Plasma C5-OH: high; Urine OA: MGA”, from which an arrow points to an oval reading “3-methylglutaconic aciduria type 1”. The sixth arrow points to an oval reading “Plasma C5-OH: high; Urine OA: MCD”, from which an arrow points to a shaded oval reading “Biotinidase assay”. From this oval emerge two arrows. The first points to an oval reading “Activity deficient”, from which an arrow points to an oval reading “Biotinidase deficiency”. The second arrow from the “Biotinidase assay” oval points to an oval reading “Activity normal”. From that oval an arrow points to a shaded oval reading “Holocarboxylase synthase assay”, from which emerge two arrows. The first points to an oval reading “Activity deficient”, from which an arrow points to an oval reading “Holocarboxylase deficiency”. The second arrow from the “Holocarboxylase synthase assay” oval points to an oval reading “Activity normal”, from which an arrow points to an oval reading “Biotin deficiency”. The seventh arrow from the “Assay: Urine OA; Plasma AC” oval points to an oval reading “Plasma AC: normal; Urine OA: normal”, from which an arrow points to an oval reading “Infant healthy. Rule out maternal IEM*”. Arrows from the ovals reading “3-MCC”, “HMG-CoA; Lyase deficiency”, “Beta-ketothiolase deficiency”, “2M3HBA(MHBD) deficiency”, “3-methylglutaconic aciduria type 1”, “Biotinidase deficiency”, and “Holocarboxylase deficiency” point to a shaded oval reading “Optional confirmatory testing: DNA analysis and/or enzyme assay”.