Skip to main content
SpringerLink
Log in
Book cover

Encyclopedia of Autism Spectrum Disorders pp 1–2Cite as

Aminoacidophathies, Disorders of

  • Living reference work entry
  • First Online:

  • 788 Accesses

Synonyms

Amino acid disorders

Definition

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...

This is a preview of subscription content, log in via an institution.

References and Reading

  • Croonenberghs, J., Delmeire, L., Verkerk, R., Lin, A. H., Meskal, A., Neels, H., … & Maes, M. (2000). Peripheral markers of serotonergic and noradrenergic function in post-pubertal, caucasian males with autistic disorder. Neuropsychopharmacology, 22(3), 275–283.

    Google Scholar 

  • Kałużna-Czaplińska, J., Zurawicz, E., Michalska, M., & Rynkowski, J. (2013). A focus on homocysteine in autism. Acta Biochimica Polonica, 60, 137.

    PubMed  Google Scholar 

  • Lowe, T. L., Tanaka, K., Seashore, M. R., Young, J. G., & Cohen, D. J. (1980). Detection of phenylketonuria in autistic and psychotic children. JAMA, the Journal of the American Medical Association, 243(2), 126–128.

    Article  PubMed  Google Scholar 

  • McDougle, C., Naylor, S. T., Cohen, D. J., Aghajanian, G. K., Heninger, G. R., & Price, L. H. (1996). Effects of tryptophan depletion in drug-free adults with autistic disorder. Archives of General Psychiatry, 53(11), 993.

    Article  PubMed  Google Scholar 

  • Moreno-Fuenmayor, H., Borjas, L., Arrieta, A., Valera, V., & Socorro-Candanoza, L. (1996). Plasma excitatory amino acids in autism. Investigación Clínica, 37(2), 113–128.

    PubMed  Google Scholar 

  • van Spronsen, F. J. (2010). Phenylketonuria: A 21st century perspective. Nature Reviews Endocrinology, 6(9), 509–514.

    Article  PubMed  Google Scholar 

  • Warren, R. P., & Singh, V. K. (1996). Elevated serotonin levels in autism: Association with the major histocompatibility complex. Neuropsychobiology, 34(2), 72–75.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Autism Program, Child Study Center, Yale School of Medicine, 06511, New Haven, CT, USA

    Karthikeyan Ardhanareeswaran

  2. Program in Neurodevelopment and Regeneration, Yale School of Medicine, New Haven, CT, USA

    Karthikeyan Ardhanareeswaran

  3. Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT, USA

    Karthikeyan Ardhanareeswaran

Authors
  1. Karthikeyan Ardhanareeswaran
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Karthikeyan Ardhanareeswaran .

Editor information

Editors and Affiliations

  1. Yale Child Study Center, New Haven, Connecticut, USA

    Fred R. Volkmar

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer Science+Business Media New York

About this entry

Cite this entry

Ardhanareeswaran, K. (2015). Aminoacidophathies, Disorders of. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_102055-1

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6435-8_102055-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6435-8

  • eBook Packages: Springer Reference Behavioral Science and PsychologyReference Module Humanities and Social SciencesReference Module Business, Economics and Social Sciences

Publish with us

Policies and ethics

Search

Navigation