Case study on phenylketonuria: a memic autism

Abstract

Phenylketonuria (PKU) is a phenylalanine catabolism metabolic condition characterized by a decrease in the activity of the phenylalanine hydroxylase or Dihydro pteridine reductase enzyme. This inherited condition causes a build-up of phenylalanine in the bloodstream. Elevated phenylalanine levels in the blood can cause muscle rigidity, choreoathetosis, tremors, hyperreflexia, dermatitis, pale skin, and pseudo-scleroderma. The central nervous system deficiencies in PKU are caused by phenylalanine and phenyl pyruvic acid competing for dopamine, adrenaline, norepinephrine, and serotonin in the brain. Structural changes are caused by neurotransmitter inhibition and phenylalanine and phenyl pyruvic accumulations in the white matter of the posterior periventricular, frontal, and subcortical areas of the brain1. Greater myelin turnover decreased synaptogenesis, and reduced neuronal digenesis ensues from myelin deficit, resulting in cognitive development and mental retardation1. The patient in this case study is an 8-year-old boy who has been diagnosed with phenylketonuria. The patient’s parents had a history of consanguinity marriage. The patient has had seizures since he was nine months old. Speech and language delays, hearing loss, and tooth discoloration are all common symptoms. He had an MRI and a brain scan, as well as a blood amino acids test, which revealed that he has mild developmental delays. Mild to Moderate Autistic Features is Delayed.