Primarily used for diagnosis and monitoring of patients with pyridoxine-dependent epilepsy. Can also aid in differential diagnosis of peroxisomal disorders, hyperlysinemia type 1, and sulfite oxidase/molybdenum cofactor deficiencies.
- Patient Preparation
- Random urine. First morning urine is preferred.
- Specimen Preparation
- Transfer 1 mL urine to an ARUP Standard Transport Tube and freeze immediately. (Min: 0.3 mL)
- Storage/Transport Temperature
- CRITICAL FROZEN (preferred). Refrigerated specimens are acceptable for testing if frozen within 24 hours from start of collection.
- Unacceptable Conditions
- Samples exposed to more than two freeze/thaw cycles.
- Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g.TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at http://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
- Ambient: Unacceptable; Refrigerated: 24 hours; Frozen at -20°C: 1 week; Frozen at -70°C: 1 year
|Age||Pipecolic Acid||Total AASA-P6C|
|0 - 30 days||Less than or equal to19.6 mmol/mol creatinine||Less than or equal to 18.7 mmol/mol creatinine|
|1 - 5 months||Less than or equal to 12.1 mmol/mol creatinine||Less than or equal to 13.4 mmol/mol creatinine|
|6 - 11 months||Less than or equal to 7.2 mmol/mol creatinine||Less than or equal to 5.3 mmol/mol creatinine|
|Greater than 1 Year||Less than or equal to 1.2 mmol/mol creatinine||Less than or equal to 3.1 mmol/mol creatinine|
|Component Test Code*||Component Chart Name||LOINC|
|2008132||Creatinine, Urine (Pipecolic)||2161-8|
|2008134||Pipecolic Acid, Urine||32335-2|
|2013356||Pyridoxine-Dependent Epilepsy Interp, Ur|
|2013357||Total AASA-P6C, Urine|
- Alpha-aminoadipic semialdehyde, Urine
- Delta1-piperideine-6-carboxylate 1, Urine
- Delta1-piperideine-6-carboxylate 2, Urine
- Pipecolic Acid, Urine
- Urine pipecolic acid