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.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Plain universal container
Plain universal container
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Specimen Container Paediatric:
Plain universal container
Plain universal container
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Minimum Volume Adult:
2 mL urine
2 mL urine
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Minimum Volume Paediatric:
2 mL urine
2 mL urine
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Sample Stability:
Store frozen
Store frozen
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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
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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...
Read MoreIncreased 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
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: