Letter to the Editor1H MR spectroscopy of the brain in Cr transporter defect
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Cited by (24)
Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature
2023, Radiology Case ReportsCoexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation
2020, Brain and DevelopmentCitation Excerpt :Presence of GAA in the MRS has been reported in a patient with CRTR deficiency. Despite the normal levels of GAA in body fluids, it may accumulate in the brain tissue of the patients with CRTR deficiency [8]. Myopathy with moderately elevated pCK levels in AGAT deficiency have been reported [9].
Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome
2019, NeuropharmacologyCitation Excerpt :The P554L variant leads to hypotonia, severe intellectual disability and drug-resistant epilepsy, and sudden death of one patient at the age of 17 (Rosenberg et al., 2004; Nozaki et al., 2015). One clinical study reported significantly higher levels of guanidinoacetic acid (GAA) in the brains of CTD patients, with creatine being virtually absent (Sijens et al., 2005). CRT-1 is known to play a role in the transport of GAA in the brain and the blood cerebrospinal fluid barrier, albeit with a KM value 10-fold greater than that of creatine (Tachikawa et al., 2008).
Creatine in the central nervous system: From magnetic resonance spectroscopy to creatine deficiencies
2017, Analytical BiochemistryCitation Excerpt :As noted for the two other CCDS, brain Cr virtual absence in 1H MRS is characteristic of SLC6A8 deficiency (Fig. 6), while interestingly normal levels of Cr are usually measured in CSF of these patients [14,85]. As in GAMT deficiency, some SLC6A8-deficient patients may also present increased levels of GAA in their brain due to the absence of a functional SLC6A8 to complete the endogenous brain Cr synthetic pathway, as described above, and this GAA accumulation can be observed by 1H MRS [12,109]. Brain 1H and 31P MRS in the first-described GAMT-deficient patient [42] helped to follow up the treatments.
Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?
2012, Molecular Genetics and MetabolismCreatine and Creatine Deficiency Syndromes: Biochemical and Clinical Aspects
2010, Pediatric NeurologyCitation Excerpt :Direct measurement of total creatine levels in the brain is possible by in vivo proton magnetic resonance spectroscopy, a very useful approach for the detection of creatine deficiency syndromes. In creatine deficiency syndromes, proton magnetic resonance spectroscopy indicates a complete lack of creatine in the presence of a normal spectral pattern of the remaining metabolites [14,87,88]. Proton magnetic resonance spectroscopy is very expensive, however, and for patients with behavior disorders or mental retardation sedation is usually required, two factors that limit availability of the approach.