Figure 1.. Algorithm for diagnosis of the cerebral creatine deficiency syndromes.

Figure 1.

Algorithm for diagnosis of the cerebral creatine deficiency syndromes. Note: Urinary creatine/creatinine ratio and creatine uptake studies in cultured skin fibroblasts are often not informative in females with SLC6A8 deficiency; hence, molecular genetic testing is the preferred method of diagnosis of females with this disorder [van de Kamp et al 2011].

From: Creatine Deficiency Syndromes

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