Recent insights into pre- and postnatal pyridoxal phosphate deficiency, a treatable metabolic encephalopathy

Developmental Medicine and Child Neurology

Volumn 52, Issue 7, 2010, Pages 597-598

  Baxter, Peter ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARBOXYLYASE; FOLINIC ACID; GLYCINE CLEAVAGE SYSTEM; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE;

APNEA; BIOTINIDASE DEFICIENCY; BRAIN HEMORRHAGE; BRAIN ISCHEMIA; EDITORIAL; ELECTROCHEMICAL ANALYSIS; ELECTROENCEPHALOGRAPHY; HUMAN; HYDROCEPHALUS; HYPERPROLINEMIA; HYPOPHOSPHATASIA; INTESTINE OBSTRUCTION; INTRACTABLE EPILEPSY; METABOLIC ACIDOSIS; METABOLIC ENCEPHALOPATHY; METABOLISM; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; PERINATAL PERIOD; PRENATAL PERIOD; PRIORITY JOURNAL; PYRIDOXINE DEFICIENCY; RESPIRATORY DISTRESS; SEIZURE; TREMOR;

AGE OF ONSET; ANTICONVULSANTS; BRAIN; BRAIN DISEASES, METABOLIC; DIAGNOSIS, DIFFERENTIAL; ELECTROENCEPHALOGRAPHY; EPILEPSY; HUMANS; INFANT; LEUCOVORIN; PHENOTYPE; PYRIDOXAMINEPHOSPHATE OXIDASE; PYRIDOXINE;

EID: 77954627354     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03705.x     Document Type: Editorial

References (9)

1. Clayton PT. B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis 2006, 29:317-26.
2. Schmitt B, Baumgartner M, Mills PB. Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate deficiency. Dev Med Child Neurol 2010, 52:e133-e142. http://dx.doi.org/10.1111/j.1469-8749.2010.03660.x, DOI: (Published online 29 March 2010)
3. Gospe S. Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics (Commentary). Dev Med Child Neurol 2010, 52:599-604.
4. Balasubramaniam S, Bowling F, Carpenter K. Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5′-phosphate availability. J Inherit Metab Dis 2010, Epub ahead of print
5. Baxter P. Pyridoxine dependent and pyridoxine responsive seizures. Vitamin Responsive Conditions in Paediatric Neurology. International Review of Child Neurology Series 2001, 109-65. Baxter P. In, editor, London, Mac Keith Press
6. Bok LA, Been JV, Struys EA. Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. Eur J Pediatr 2010, 169:297-303.
7. Gallagher RC, Van Hove JL, Scharer G. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 2009, 65:550-6.
8. Parikh S, Hyland K, Lachhwani DK. Vitamins, not surgery: spinal fluid testing in hemispheric epilepsy. Pediatr Neurol 2009, 40:477-9.
9. Hoffmann GF, Schmitt B, Windfuhr M. Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 2007, 30:96-9.