PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism

Molecular Genetics and Metabolism

Volumn 94, Issue 4, 2008, Pages 431-434

  Khayat, Morad ^a   Korman, Stanley H ^b   Frankel, Pnina ^a   Weintraub, Zalman ^a,c   Hershckowitz, Sylvia ^a   Sheffer, Vered Fleisher ^a   Elisha, Mordechai Ben ^a   Wevers, Ronald A ^d   Falik Zaccai, Tzipora C ^a,c  

^a WESTERN GALILEE HOSPITAL   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Neonatal seizures; PNPO deficiency; Pyridoxal phosphate (PLP); Pyridoxamine; Pyridoxine 5 phosphate oxidase (PNPO)

Indexed keywords

ARGININE; DIAZEPAM; HISTIDINE; LIDOCAINE; MIDAZOLAM; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE; THIOPENTAL;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHEMICAL ANALYSIS; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; DRUG DOSE INCREASE; DRUG MEGADOSE; ENZYME ANALYSIS; ENZYME DEFICIENCY; FEMALE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; INTRACTABLE EPILEPSY; LUNG VENTILATION; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL; PYRIDOXINE 5 PHOSPHATE OXIDASE DEFICIENCY; SEQUENCE ANALYSIS; URINALYSIS;

AMINO ACID SUBSTITUTION; ANIMALS; BRAIN DISEASES, METABOLIC, INBORN; CHO CELLS; CODON, NONSENSE; CONSANGUINITY; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE EXPRESSION; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; MALE; MUTAGENESIS, SITE-DIRECTED; PEDIGREE; POINT MUTATION; PRENATAL DIAGNOSIS; PYRIDOXAMINEPHOSPHATE OXIDASE; PYRIDOXINE; SEIZURES;

EID: 46749100900     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.04.008     Document Type: Article

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