Encyclopedia of Autism Spectrum Disorders

Living Edition
| Editors: Fred R. Volkmar

Aminoacidophathies, Disorders of

  • Karthikeyan ArdhanareeswaranEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6435-8_102055-1



Aminoacidopathies, or amino acid disorders, are the result of an individual’s inability to metabolize certain amino acids in proteins and/or detoxify the resultant by-products of that amino acid metabolism. The buildup of these amino acids and/or amino acid metabolism by-products in the blood can have severe medical implications, including autism spectrum disorders. Because amino acids are the key building blocks of many neurotransmitters, they are crucial to the proper regulation and development of cognitive, social, and emotional brain functions.

Serotonin, essential to the regulation of mood, is a monoamine neurotransmitter derived from tryptophan. Artificial depletion of tryptophan in autistic adults results in an increase in repetitive, anxious, and self-injurious behaviors. Plasma levels of tryptophan are significantly lower in autistic adolescents compared to age-matched unaffected individuals. In concordance with hypotheses of...


Autism Spectrum Disorder Amino Acid Metabolism Phenylalanine Hydroxylase Nonprotein Amino Acid Amino Acid Phenylalanine 
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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Autism Program, Child Study CenterYale School of MedicineNew HavenUSA
  2. 2.Program in Neurodevelopment and RegenerationYale School of MedicineNew HavenUSA
  3. 3.Department of Molecular, Cellular, and Developmental BiologyYale UniversityNew HavenUSA