Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?

• Published in: Autism research 2010-10, Vol.3 (5), p.268-272
• Main Authors: Wang, Lv, Angley, Manya T., Sorich, Michael J., Young, Robyn L., McKinnon, Ross A., Gerber, Jacobus P.
• Format: Article
• Language: English
• Subjects: autism spectrum disorder (ASD); Biomarkers - urine; Brain Diseases, Metabolic, Inborn - complications; Brain Diseases, Metabolic, Inborn - diagnosis; Brain Diseases, Metabolic, Inborn - urine; Child; Child Development Disorders, Pervasive - etiology; Child Development Disorders, Pervasive - urine; Chromatography, High Pressure Liquid - methods; creatine (CR); Creatine - deficiency; Creatine - urine; creatine deficiency syndrome (CDS); diagnostic biomarkers; Female; Glycine - analogs & derivatives; Glycine - urine; guanidinoacetate (GAA); Humans; liquid chromatography tandem mass spectrometry (LC-MS/MS); Male; Mass Screening - methods; Mental Retardation, X-Linked - complications; Mental Retardation, X-Linked - diagnosis; Mental Retardation, X-Linked - urine; Plasma Membrane Neurotransmitter Transport Proteins - deficiency; Plasma Membrane Neurotransmitter Transport Proteins - urine; Syndrome; Tandem Mass Spectrometry - methods
• ISSN: 1939-3792; 1939-3806
• DOI: 10.1002/aur.145

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.