Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.

ABSTRACT:

Background

Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.

Methods

We reviewed electronic patient charts for all patients that underwent urine creatine metabolite panel testing in the metabolic laboratory at our institution.

Results

There were 498 tests conducted on 413 patients. Clinical, molecular genetics and neuroimaging features were available in 318 patients. Two new patients were diagnosed with creatine transporter deficiency: one female and one male, both had markedly elevated urine creatine. Urine creatine metabolite panel was also used as a monitoring test in our metabolic laboratory. Diagnostic yield of urine creatine

SUBMITTER: Bahl S 

PROVIDER: S-EPMC7709238 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature