Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures

An asphyxiated neonate with pyridoxine-dependent seizures and associated transient nonketotic hyperglycinemia is reported. Frequent seizures and their resultant hypoxic-ischemic insult may have led to the elevation of the cerebrospinal fluid glycine level in this patient. Early diagnosis and treatme...

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Bibliographic Details
Published in:Pediatric neurology 2000-03, Vol.22 (3), p.225-227
Main Authors: Maeda, Tomoki, Inutsuka, Miki, Goto, Kazuya, Izumi, Tatsuro
Format: Article
Language:English
Subjects:
Aminoacid disorders
Asphyxia Neonatorum - complications
Asphyxia Neonatorum - metabolism
Biological and medical sciences
Brain - metabolism
Electroencephalography
Errors of metabolism
Glycine - metabolism
Humans
Hyperglycinemia, Nonketotic - etiology
Hyperglycinemia, Nonketotic - metabolism
Infant, Newborn
Male
Medical sciences
Metabolic diseases
Pyridoxal Phosphate - therapeutic use
Seizures - etiology
Seizures - physiopathology
Treatment Outcome
Vitamin B 6 Deficiency - complications
Vitamin B 6 Deficiency - drug therapy
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Summary:An asphyxiated neonate with pyridoxine-dependent seizures and associated transient nonketotic hyperglycinemia is reported. Frequent seizures and their resultant hypoxic-ischemic insult may have led to the elevation of the cerebrospinal fluid glycine level in this patient. Early diagnosis and treatment of pyridoxine-dependent seizures is essential for an improved neurologic outcome.
ISSN:0887-8994
1873-5150
DOI:10.1016/S0887-8994(99)00138-1