title: Pyridoxal Phosphate Supplementation in Neuropediatric Disorders.
abstract: Pyridoxal phosphate (PLP) is the active form of vitamin B6and a cofactor in many enzyme reactions including neurotransmitter metabolism. PLP metabolism disturbances may mostly lead to refractory seizures. In this report, we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients with low-normal cerebrospinal fluid PLP values who presented epilepsy. Only one case had a definite diagnosis (Phelan-McDermid syndrome). The results of extensive metabolic workups and targeted genetic studies were normal for all patients. In 5 cases, the response to PLP supplementation (10-30mg/kg/d) was initially positive. PLP adverse reactions were noticed in 4 patients and PLP was discontinued; however, one of the most noticeable symptoms was an asymptomatic increase in liver enzymes. These negative results with PLP supplementation are worth reporting, to improve the information we use to treat our patients.
authors.affiliation: From the *Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; (†)Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: sendacs@gmail.com.
authors.forename: Elisenda
authors.initials: E
authors.lastname: Cortès-Saladelafont
authors.affiliation: CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain; Department of Genetics and Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Molero-Luis
authors.affiliation: From the *Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; (†)Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain; Department of Genetics and Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain; Molecular Medicine Institute, University of Lisbon, Lisbon, Portugal; Child Neurology Department, Hospital D. Estefânia, Centro Hospitalar Lisboa Central, Lisbon, Portugal; Department of Neonatology, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.lastname: Hsjd Working Group
authors.affiliation: CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain; Department of Genetics and Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.affiliation: From the *Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; (†)Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain.
authors.forename: Àngels
authors.initials: À
authors.lastname: García-Cazorla
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000188:drug therapy* / Q000378:metabolism*; D006801:Humans; D007223:Infant; D011732:Pyridoxal Phosphate / Q000008:administration & dosage / Q000009:adverse effects / Q000172:deficiency* / Q000494:pharmacology*; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000008:administration & dosage / Q000009:adverse effects / Q000494:pharmacology*
chemical_list: D014803:Vitamin B Complex; D011732:Pyridoxal Phosphate