Phenylketonuria with Autism Spectrum Disorders- A Case Study V. Suresh Kumar

Infantile autism is behaviorally defined as neurodevelopment disorder, beginning at a very young stage in children. The cause of autism remains largely unknown as it is likely multifactorial, arising from the interaction of biologic, genetic and environmental factors. The specific role of neurometabolic abnormalities in autism is largely unknown. But current research may provide insight into the pathophysiologic underpinnings of autism. Our current understanding of autism suggests that it is neurometabolic disorder and that it may be caused by Phenylketonuria, one of the particular enzyme defects. We identified a case report of Phenylketonuria disorder patient having an autistic behavior. We have also recommended Phenylalanine restricted diet for this case. While good care and early intervention can help preventing the progress of mental and developmental disorders associated with the metabolic disorder and need for future research aimed at understanding the relations among autism and neurometabolic disorders