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) |  |  |