Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy

Pediatrics

Volumn 129, Issue 5, 2012, Pages

  Mercimek Mahmutoglu, Saadet ^a,b   Horvath, Gabriella A ^a   Coulter Mackie, Marion ^a   Nelson, Tanya ^a   Waters, Paula J ^c   Sargent, Michael ^a   Struys, Eduard ^d   Jakobs, Cornelis ^d   Stockler Ipsiroglu, Sylvia ^a   Connolly, Mary B ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Aldh7a1 deficiency; Hypoxic ischemic encephalopathy; Lactic acidosis; Myoclonic epilepsy; Neonatal hypoglycemia; Pyridoxine dependent epilepsy

Indexed keywords

AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; CLOBAZAM; CLONAZEPAM; ETIRACETAM; FRUCTOSE BISPHOSPHATASE; GLUCOSE; LACTIC ACID; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP); PIRACETAM; PYRIDOXINE; PYRUVATE CARBOXYLASE; TOPIRAMATE;

ALDH7A1 GENE; ALPHA AMINOADIPIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; ARTICLE; BRAIN HEMORRHAGE; CASE REPORT; CHILD; DRUG MEGADOSE; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; EPILEPSY; FEMALE; FOCAL EPILEPSY; GENE; HEMATEMESIS; HUMAN; HYPOGLYCEMIA; LACTIC ACIDOSIS; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT EPILEPSY;

EID: 84860550113     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2011-0123     Document Type: Article

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