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ID:1012 Creatine Synthesis Disorders
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Description Creatine and creatine phosphate play a large role in storage and utilisation of phosphate bound energy. Creatine can be obtained from the diet or synthesised de novo from arginine and glycine. Two inherited disorders of de novo creatine synthesis and a transporter defect have been identified all of which cause cerebral creatine deficiency.
Indication Presentation of the three creatine synthesis disorders is neurological with psychomotor retardation, developmental delay, speech delay and epilepsy the most common features.
Additional Info Disorders = Guanidinoacetate methyltransferase (GAMT) deficiency, arginine:glycine amidinotransferase (AGAT) deficiency and x-linked creatine transporter defect (SLC6A8).
Concurrent Testsna
Dietary Requirementsna
Interpretation

DepartmentSpecialist Laboratory Medicine
SampleFresh Random Urine
TubePlain Universal
Tube Picture
Collection Conditions Please send a lithium heparin plasma sample along with urine sample. Samples must be sent to laboratory as soon as possible (urine/plasma must be frozen with 2 hours of collection)
Min. Vol 0.1 mL
Freq.

Ref. Range (Male)
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range Notes Please refer to report.
Units - Not Defined -
IP Acute TAT- Not Defined -
IP Routine TAT30 days
GP Acute TAT- Not Defined -
GP Routine TAT- Not Defined -
Turnround CommentNA

Originally edited by : Robert Barski. Review due on 03/05/2020 10:51:07. Published By RB on 03/05/2019 10:51:07.