Nonketotic Hyperglycinemia

A Paradigm for the Application of Neuroscience to the Understanding and Treatment of a Developmental Disorder
  • Stephen I. Deutsch
  • Lynn H. Deutsch
  • Ronit Weizman


Nonketotic hyperglycinemia is an autosomal-recessive disorder that usually presents during the neonatal period and, in its classic or typical form, is characterized by poor muscle tone, feeding difficulties, intractable seizures, and death due to respiratory insufficiency.1,2 Phenotypically, the disorder can be quite heterogeneous; atypical presentations include mild mental retardation and expressive language difficulties as the sole features.3-8 In many ways, nonketotic hyperglycinemia serves as a paradigm for the application of basic neuroscience to the understanding and treatment of a developmental disorder.


Sodium Benzoate Classic Presentation Glycine Level Glycine Cleavage System Nonketotic Hyperglycinemia 
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Copyright information

© Plenum Publishing Corporation 1990

Authors and Affiliations

  • Stephen I. Deutsch
    • 1
  • Lynn H. Deutsch
    • 1
  • Ronit Weizman
    • 2
    • 3
  1. 1.Psychiatry Service, Veterans Administration Medical Center, and Department of PsychiatryGeorgetown University School of MedicineUSA
  2. 2.Pediatric DepartmentHasharon HospitalPetah TiqvaIsrael
  3. 3.Sackler Faculty of MedicineTel Aviv UniversityTel AvivIsrael

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