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GABA Transaminase Deficiency With Survival Into Adulthood.

Anaita U Hegde1, Purva K Karnavat1, R Vyas2

  • 11 Jaslok Hospital and Research Center, Mumbai, Maharashtra, India.

Journal of Child Neurology
|January 16, 2019
PubMed
Summary
This summary is machine-generated.

γ-Aminobutyric acid (GABA)-transaminase deficiency, a rare metabolic disorder, typically causes early-onset epilepsy and developmental issues. This study reveals extended survival into adulthood, broadening the known disease phenotype.

Keywords:
ABAT geneGABA metabolismGABA-T deficiencyGABA-transaminase deficiencyIndia

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Area of Science:

  • Biochemistry
  • Neuroscience
  • Genetics

Background:

  • γ-Aminobutyric acid (GABA)-transaminase deficiency is an ultra-rare inherited disorder impacting GABA metabolism.
  • Historically, it presented as early-onset epileptic encephalopathy with movement disorders, hypersomnolence, and early childhood mortality.

Observation:

  • This report details two siblings affected by GABA-transaminase deficiency.
  • The siblings present in adolescence and adulthood, exhibiting profound developmental impairment, intractable epilepsy, movement disorder, and fluctuating behaviors.

Findings:

  • The observed phenotype in these siblings significantly expands the known clinical spectrum of GABA-transaminase deficiency.
  • The patients' survival into adolescence and adulthood challenges the previously established early-mortality profile.

Implications:

  • This expands the understanding of the longevity and clinical variability of this inherited neurotransmitter disease.
  • Highlights the need for updated diagnostic and management strategies for patients with extended survival.
  • Suggests potential for novel therapeutic targets in GABA metabolism disorders.