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Table 2 Two new patients, who had diagnosis of CRTR deficiency during the study period are summarized in Table 2 for their clinical features and genotypes

From: Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

Diagnosis current age/ sex Age of onset/age of diagnosis Clinical features Urine creatine panel Brain MRI/ MRS (age) Molecular genetic test results
1/CRTR deficiency/6yrs/F 6mo/3yrs GDD, hypotonia, seizures, ASD, aggressive behavior ↑ Creatine (4118 mmol/mol creatinine; reference range 14–830) N/decreased creatine (3yrs) HTZ de novo c.1583del (p.Pro528Argfs*67) in SLC6A8 (next generation sequencing panel for ID)
    N guanidinoacetate (36.6 mmol/mol creatinine; reference range 5–150)   
2/CRTR deficiency/5yrs/M 1 yr/2.5yrs GDD, febrile seizure ↑ Creatine (3915 mmol/mol creatinine; reference range 14–830) NP Hemizygous c.321_323delCTT (p.Phe107del) in SLC6A8 (WES) (mosaic mother 10/163 reads in the mother, asymptomatic)
    N guanidinoacetate (42 mmol/mol creatinine; reference range 5–150)   
  1. ASD = autism spectrum disorder; CRTR = creatine transporter; GDD = global developmental delay; HTZ = heterozygous; ID = intellectual disability; MRI = magnetic resonance imaging; MRS = magnetic resonance spectroscopy; N = normal; NP = not performed; WES = whole exome sequencing
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