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2020

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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CSF VITAMIN B6 LEVELS AND RESPONSE TO PYRIDOXAL 5’-PHOSPHATE IN DIVERSE EPILEPTIC ENCEPHALOPATHIES

Cortès-Sala dela font E (1), Sofia Duarte (2,3), Molero M (4), Casado M (4), O’Callaghan-Gordo M (1), Sanmartí-Vilaplana X (1), Fons C (1), González-Álvarez V (1),  Pérez-Dueñas B (1), Poo P (1), Ulate A (1), Artuch R (4,5), Àngels García-Cazorla (1,5)

(1) Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
(2) Neuropediatrics Department, Hospital de D. Estefânia, CHLC;
(3) Molecular Medicine Institute, University of Lisbon, Portugal
(4) Department of Genetics and Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain (5) CIBER-ER (Biomedical Network Research Centre on Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain

International Congress of Inborn Errors of Metabolism 2013, Barcelona, September 2013

Background: PNPO gene mutations can produce neonatal refractoryseizuresthatrespondtopyridoxalphosphate (PLP). PLP isthe active form of vitamin B6 and a cofactor of more than 120 enzymereactionsincludingneurotransmittermetabolism.

Objectives: To describe themainclinical and etiologicalfeatures of a series of 14 patientswith CSF vitamin B6 deficiency and their response to PLP treatment.

Patients and Methods: Clinical and geneticstudies of X patients (aged 1 dayto 8 years), withepilepticencephalopathy (butalsootherclinicalsigns) and lowvitamin B6 in the CSF (4-31nmol/L; N:32-78) are reported. Etiologieswerediverse: hypoxic-ischemicencephalopathy, chromosomalabnormalities, INAD and KCNQ2 mutations. 4 patientswith no etiological diagnosis hadnegative PNPO geneticstudy. Onepatienthadburstsuppressionpattern. Plasma PLP wasdecreased in 3 patients, plasma and CSF aminoacidswere normal. 3-orthometyldopa waselevated in 1 case. 5-HIIA, HVA, and GABA weredecreased in 8, 3 and 1 patientsrespectively. Nonehad anemia orevidence of malabsortionsyndrome. Anextensivemetabolicwork-up wasnegative. 12 weretreatedwithantiepilepticdrugsbeingvalproatethemostfrequentlyused. Response totreatmentResponse to treatment was positive for seizure control and cognitive performance in 5 of them, while the others showed no positive response or adverse efects (in 2 of them).

Conclusion/Discussion: Otherthan PNPO mutations, PLP depletion in the CSF could be duerelatedtodifferentclinicalsituationssuch as refractoryepilepsy and theprolonged use of some particular antiepilepticdrugs. PLP treatmentmayhavevery positive effectsregardlesstheetiology.

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