19135633

Source:http://linkedlifedata.com/resource/pubmed/id/19135633

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0270716, umls-concept:C0751748
pubmed:issue	2
pubmed:dateCreated	2009-1-12
pubmed:abstractText	Nonketotic hyperglycinemia is an autosomal recessive disorder of glycine metabolism. Patients generally present in the neonatal period with lethargy, feeding difficulty, hypotonia, apnea, poorly controlled convulsions, and coma. Myoclonic seizures and burst suppression pattern on electroencephalography are major findings of disease, but development of hydrocephalus is not an expected finding. The present case is that of an infant with acquired hydrocephalus, psychomotor retardation, and myoclonic seizures in whom the final diagnosis was nonketotic hyperglycinemia.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/8508183
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Feb
pubmed:issn	0887-8994
pubmed:author	pubmed-author:DirikErayE, pubmed-author:KurulSemra HizSH, pubmed-author:YisUlucU
pubmed:issnType	Print
pubmed:volume	40
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	138-40
pubmed:meshHeading	pubmed-meshheading:19135633-Electroencephalography, pubmed-meshheading:19135633-Female, pubmed-meshheading:19135633-Humans, pubmed-meshheading:19135633-Hydrocephalus, pubmed-meshheading:19135633-Hyperglycinemia, Nonketotic, pubmed-meshheading:19135633-Infant, pubmed-meshheading:19135633-Magnetic Resonance Imaging, pubmed-meshheading:19135633-Seizures
pubmed:year	2009
pubmed:articleTitle	Nonketotic hyperglycinemia and acquired hydrocephalus.
pubmed:affiliation	Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University, Izmir, Turkey.
pubmed:publicationType	Journal Article, Case Reports