Porphobilinogen (PBG) Deaminase, Erythrocyte
0099550
Ordering Recommendation
 
Mnemonic
PBG-D
Methodology
Quantitative Enzymatic/Fluorometry
Performed
Tue, Thur
Reported
1-5 days  
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA) or pink (K2EDTA).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Frozen.  
Unacceptable Conditions
Body fluid other than EDTA preserved whole blood. Clotted specimens.  
Remarks
  
Stability
Ambient: 4 hours; Refrigerated: 1 week; Frozen: 1 month  
Reference Interval
Adult: 2.10-4.30 mU/g Hb  
Interpretive Data
Porphobilinogen (PBG) deaminase (hydroxymethylbilane synthase or uroporphyrinogen I synthase) is expressed in units of mU per gram hemoglobin at 37°C. In persons genetically susceptible to acute intermittent porphyria (AIP), PBG deaminase concentrations are approximately half of reference values. Normal concentrations of erythrocyte PBG deaminase may include abnormal forms of hepatic PBG deaminase.  
Note
This test is most useful for family studies to determine which family members are at risk for acute intermittent porphyria and is best performed in association with a specimen from the proband. Because of ambiguous results, this test is not generally recommended for diagnosis.
CPT Code(s)
82657
Components
Component Test Code*Component Chart Name
0099550Porphobilinogen Deaminase Rbc
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Aliases
  • Acute Intermittent Porphyria Enzyme
  • HMB Synthase
  • HMBS
  • Hydroxymethylbilane Synthase
  • PBG-D
  • Porphyria Enzyme
  • Uroporphyrinogen I Synthase
  • Uroporphyrinogen Synthase