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[Non-ketotic hyperglycinemia. Transient neonatal form]

J Vaquerizo1, P Rincón, J Sánchez Alarcón

  • 1Departamento de Pediatria, Hospital Universitario Regional, Infanta Cristina, Badajoz.

Revista De Neurologia
|March 1, 1996
PubMed
Summary

Transient nonketotic hyperglycinemia can cause neonatal epilepsy. This case showed good neurological recovery and normalized brain imaging by one year of age, suggesting a treatable cause of early-onset seizures.

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Area of Science:

  • Biochemistry
  • Neurology
  • Pediatrics

Background:

  • Neonatal epilepsy presents a diagnostic challenge.
  • Nonketotic hyperglycinemia (NKH) is a rare metabolic disorder.
  • Transient forms of NKH are less understood.

Observation:

  • A patient presented with neonatal epilepsy without burst-suppression patterns.
  • The epilepsy was linked to a transient form of nonketotic hyperglycinemia.
  • Initial neuroimaging revealed delayed myelination and frontal white matter microcysts.

Findings:

  • Biochemical markers normalized by two weeks of age.
  • The patient exhibited favorable clinical evolution and neurological normality at one year.
  • Transitory neuroradiological abnormalities resolved completely.

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Implications:

  • This case highlights a treatable cause of neonatal seizures.
  • Early diagnosis and management of NKH can lead to excellent outcomes.
  • Further research into glycine cleavage system immaturity is warranted.