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Glycine encephalopathy.

S Bhumika1, Kanthesh M Basalingappa1, T S Gopenath2

  • 1Division of Molecular Biology, School of Life Sciences, JSS Academy of Higher Education and Research, Mysuru, 570015 India.

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|November 23, 2022
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Summary

Non-ketotic hyperglycinaemia (NKH), a rare neurometabolic disorder, causes glycine accumulation and severe neurological symptoms in newborns. Current treatments manage symptoms, but there is no cure for this inherited condition.

Keywords:
13C glycine breath methodGLYT1 encephalopathyMLPANon-ketotic hyperglycinaemiaSLC6A9 gene

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Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Inherited neurotransmitter diseases are rare neurometabolic disorders.
  • Non-ketotic hyperglycinaemia (NKH), or glycine encephalopathy, is an autosomal recessive disorder of glycine metabolism.
  • NKH involves glycine accumulation in tissues, including the central nervous system (CNS).

Purpose of the Study:

  • To describe the genetic basis and clinical presentation of Non-ketotic hyperglycinaemia (NKH).
  • To explain the molecular mechanisms underlying neuronal damage in NKH.
  • To outline diagnostic methods and current management strategies for NKH.

Main Methods:

  • Genetic analysis of the SLC6A9 gene and related enzymes.
  • Biochemical assays including 13C glycine breath tests.
  • Molecular methods like MLPA (Multiplex Ligation-dependent Probe Amplification) for diagnosis.

Main Results:

  • Mutations in SLC6A9 or GCS enzyme components cause NKH.
  • Glycine accumulation disrupts MAPK signaling, leading to excitotoxicity and neuronal death.
  • Neonatal NKH presents with encephalopathy, hypotonia, and seizures, sometimes resulting in mortality.

Conclusions:

  • NKH is a severe inherited neurometabolic disorder with significant neurological impact.
  • Diagnosis relies on clinical findings, genetic testing, and biochemical assays.
  • Current management focuses on supportive care, with no definitive cure available.