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 treatment of pyridoxine-dependent seizures is essential for an improved neurologic outcome.
Maeda
T
T
Department of Pediatrics, Oita Medical University School of Medicine, Oita, Japan.
Inutsuka
M
M
Goto
K
K
Izumi
T
T
D001238:Asphyxia Neonatorum / Q000150:complications* / Q000378:metabolism; D001921:Brain / Q000378:metabolism; D004569:Electroencephalography; D005998:Glycine / Q000378:metabolism; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000209:etiology* / Q000378:metabolism*; D007231:Infant, Newborn; D008297:Male; D011732:Pyridoxal Phosphate / Q000627:therapeutic use; D012640:Seizures / Q000209:etiology* / Q000503:physiopathology; D016896:Treatment Outcome; D026681:Vitamin B 6 Deficiency / Q000150:complications* / Q000188:drug therapy
D011732:Pyridoxal Phosphate; D005998:Glycine