Newcastle Laboratories

Hexanoyl glycine, urine

Clinical Background:

Urine hexanoyl glycine is increased in patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and multiple acyl-CoA dehydrogenase deficiency (MADD, glutaric aciduria type II).  It may...

Urine hexanoyl glycine is increased in patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and multiple acyl-CoA dehydrogenase deficiency (MADD, glutaric aciduria type II).  It may also found in urine in patients with severe ketosis. 

It may be difficult to detect hexanoylglycine in patients with MCADD by analysis of urine organic acids, particularly when the patient is stable.

Quantitation of urine hexanoyl glycine by stable isotope dilution GC-MS is a more sensitive technique and is performed to confirm a diagnosis of MCADD identified on newborn screening.  Levels are usually above the reference range in patients with MCADD, however in some rare cases urine hexanoyl glycine is not increased, therefore a normal result does not exclude the disorder.

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Test Details

  • Discipline:

    Biochemistry

    Biochemistry

  • Specimen Container Adult:

    Plain universal container

    Plain universal container

  • Specimen Container Paediatric:

    Plain universal container

    Plain universal container

  • Minimum Volume Adult:

    2 mL urine

    2 mL urine

  • Minimum Volume Paediatric:

    2 mL urine

    2 mL urine

  • Sample Stability:

    Store frozen

    Store frozen

  • Transport Requirements:

    Local Trust requests:  send sample at ambient temperature

    External hospitals: store and send sample frozen

    Local Trust requests:  send sample at ambient temperature

    External hospitals: store and send sample frozen

  • Interpretation:

    Increased hexanoyl glycine should be interpreted in context of other newborn screening results, blood spot acylcarnitines and urine organic acids.

    Quantitation is unreliable when creatinine concent...

    Increased hexanoyl glycine should be interpreted in context of other newborn screening results, blood spot acylcarnitines and urine organic acids.

    Quantitation is unreliable when creatinine concentration less than 1.0mmol/L.

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  • Reference Ranges:

    < 1.0 mmol/mol creatinine

    < 1.0 mmol/mol creatinine

  • Routine Contact Name:

    Duty Biochemist

  • Routine Telephone:

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

    Freeman: 0191 244 8889

    RVI: 0191 282 9719

  • Routine Email:

  • Specialist Test:

    Yes

    Yes

  • Specialist Contact Name:

    Metabolic Clinical Scientist

    Metabolic Clinical Scientist

  • Specialist Telephone:

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

    0191 282 9685 (Consultant Clinical Scientist)

    0191 282 0334 (Metabolic Laboratory)

  • Specialist Email:

Availability:

Available during full access hours
Assayed twice weekly
Site of analysis: RVI

Send To:

Department of Blood Sciences

Level 3
Leazes Wing
Royal Victoria Infirmary
Queen Victoria Road
Newcastle upon Tyne
NE1 4LP

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