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Organic Acid Conditions

Updated

10/12/2009

Other Names
Beta-ketothiolase deficiency (BKT);
Glutaric acidemia, Type 1 (GA-1, glutaryl-CoA dehydrogenase deficiency);
Isobutyryl CoA dehydrogenase deficiency (IBG);
Isovaleric acidemia (IVA, isovaleryl-CoA dehydrogenase deficiency);
Malonic aciduria (MAL);
Maple syrup urine disease (MSUD; branched chain alpha-ketoacid dehydrogenase deficiency);
Methylmalonic acidemias (MMA), methyl-malonyl CoA mutase deficiency and defects of B-12 metabolism;
Propionic acidemia (PA, PROP, propionyl CoA carboxylase deficiency);
3-Hydroxy-3-methylglutaryl (HMG) CoA lyase deficiency;
2-Methyl-3-hydroxybutyric CoA dehydrogenase deficiency (2M3HBA);
2-Methylbutyryl CoA dehydrogenase deficiency (2MBG, mitochondrial acetoacetyl-CoA thiolase deficiency);
3-Methylcrotonyl CoA carboxylase deficiency (3MCC);
3-Methylglutaconyl CoA hydratase deficiency (3MGA, 3-methyl-glutaconic aciduria, Type 1);
Multiple carboxylase deficiency (MCD, holocarboxylase synthetase deficiency)
How to Order
Submit Newborn Screening Dried Blood Spot Specimen Collection Card
Availability
Birthing centers, medical practitioners and laboratories responsible for newborn screening specimen collection.
Methodology
Tandem Mass Spectrometry (MS/MS)
Performed
Daily, on regular business days, for all specimens received.
Time to Reporting
2 to 10 working days after receipt of specimen card.
CPT Code
82017 – Acylcarnitines; quantitative, each specimen


Specimen Collection Details

Collection
Capillary blood obtained from heel lance and applied to newborn screening filter paper circles on the specimen collection card.  Obtain specimen prior to transfusion.  Demographic fields should be filled in completely.  First screening specimen should be collected at 24-48 hours of age or before discharge; second screening specimen should be collected at 10-15 days of age.
Optimal Volume
Four evenly saturated circles.
Minimum Volume
Two evenly saturated circles.
Handling
Air-dry specimens at room temperature for 2-4 hours in a horizontal position.  Insert dried specimens into a paper, cardboard or Tyvek envelope (do not use plastic) for shipping.  Specimens collected on weekends or holidays should be stored at room temperature and sent by overnight mail or courier at the earliest opportunity.
Transport
All specimens should be sent first class or overnight mail or by courier within 24 hours of collection.
Rejection Criteria
Improperly collected specimens, including: uneven saturation, insufficient blood volume, contamination, specimen received more than 14 days after collection or infant is older than 6 months of age.
Comments
For more information visit Oregon's Newborn Screening Practitioner's Manual at http://public.health.oregon.gov/LaboratoryServices/NewbornScreening/Documents/nbspract/manual.pdf