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Elevated urine guanidinoacetic acid level

MedGen UID:
1053508
•Concept ID:
CN376440
•
Finding
HPO: HP:0040419

Definition

The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urine guanidinoacetic acid level

Recent clinical studies

Diagnosis

Disorders of creatine transport and metabolism.
Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M
Am J Med Genet C Semin Med Genet 2011 Feb 15;157C(1):72-8. Epub 2011 Feb 9 doi: 10.1002/ajmg.c.30292. PMID: 21308988
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.
Young S, Struys E, Wood T
Curr Protoc Hum Genet 2007 Jul;Chapter 17:Unit 17.3. doi: 10.1002/0471142905.hg1703s54. PMID: 18428409
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall.
Verhoeven NM, Guérand WS, Struys EA, Bouman AA, van der Knaap MS, Jakobs C
J Inherit Metab Dis 2000 Dec;23(8):835-40. doi: 10.1023/a:1026764703486. PMID: 11196109

Therapy

Plasma concentration and urinary excretion of guanidine derivatives in normal subjects and patients with renal failure.
Sawynok J, Dawborn JK
Clin Exp Pharmacol Physiol 1975 Jan-Feb;2(1):1-15. doi: 10.1111/j.1440-1681.1975.tb02368.x. PMID: 1126056

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