Disorders of Glycine, Serine, GABA, and Proline Metabolism

  • Johan L. K. Van HoveEmail author
  • Janet A. Thomas


In addition to the role as components of protein synthesis, several amino acids have other functions in the brain such as building blocks of other brain molecules and a role in neurotransmission. Disorders in catabolism of glycine and of proline are known. The disorders of the synthesis of serine and proline cause severe abnormalities. Serine is required for the synthesis of white matter compounds such as specialized lipids, and its deficiency results in severe hypomyelination. Proline is required for the synthesis of connective tissue proteins, and its deficiency results in laxity of skin and joints. Early treatment of synthetic defects such as serine has shown more promise to avoid severe symptoms. Disturbance of the neurotransmitter roles of GABA, glycine, and 4-hydroxybutyric acid results in severe neurological symptoms. The pathophysiology of these disorders is complex, as has been shown in the mouse model of 4-hydroxybutyric aciduria. In most disorders, diagnostic studies rely on careful measurement of metabolites using age-appropriate reference ranges, followed by molecular analysis.


Williams Syndrome Proline Level Succinic Semialdehyde Velocardiofacial Syndrome Cutis Laxa 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Clinical Genetics and MetabolismThe Children’s HospitalAuroraUSA

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