Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?
Routine creatine urine screening is not useful for most kids with autism, but keep it in mind for the few with motor or seizure red flags.
01Research in Context
What this study did
Wang et al. (2010) checked if kids with autism have low creatine in their urine.
They tested the children with ASD and the kids without autism.
Both groups gave urine samples and the lab measured creatine levels.
What they found
Creatine levels were the same in both groups.
No child with autism showed clear creatine deficiency.
The authors say routine urine screens for creatine are not worth adding to autism assessments.
How this fits with other research
Almatrafi et al. (2023) found two brothers with autism who did have creatine deficiency.
This seems to clash with Lv et al., but it does not.
Lv looked at a big group to see how common the problem is.
Mohammed reported single cases to show the problem can still happen.
Root et al. (2017) and Nijs et al. (2016) also found no group differences in other urine and brain markers.
Together these papers tell the same story: single-marker screens rarely help in routine autism work-ups.
Why it matters
You can skip routine creatine urine tests for most kids with autism.
Save time and money.
If a child has low muscle tone, seizures, or motor delays, then order the test.
Use the same rule for other single biomarkers—only test when red flags appear.
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02At a glance
03Original abstract
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that presents in the first three years of life. Currently, diagnosis of ASD is based on its behavioural manifestations, as laboratory diagnostic tests do not exist. Creatine deficiency syndrome (CDS) is one form of inborn error of metabolism where affected individuals have similar clinical features to individuals with ASD. Abnormal urinary creatine (CR) and guanidinoacetate (GAA) levels have been reported as biomarkers of CDS. We hypothesized that screening for abnormal levels of urinary CR and GAA in children with ASD may assist in identifying a subgroup of ASD individuals who can be managed with dietary interventions. Morning urine samples were collected from children with and without autism and analyzed for CR and GAA levels. Results showed there was no statistically significant difference in urinary CR:creatinine and GAA:creatinine between the children with ASD and sibling or unrelated controls. In conclusion, routine screening for abnormal urinary CR and GAA could be considered in ASD diagnostic protocols; however, individuals positive for CDS are likely to be rare in an ASD cohort.
Autism research : official journal of the International Society for Autism Research, 2010 · doi:10.1002/aur.145