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1: J Child Neurol. 2000 Nov;15(11):763-5.Click here to read Links

A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation.

Burd L, Stenehjem A, Franceschini LA, Kerbeshian J.

Department of Pediatrics, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, USA. laburd@mail.med.und.nodak.edu

Pyridoxine (vitamin B6) (2q31) dependency is a rare autosomal-recessive disorder that causes a severe seizure disorder of prenatal or neonatal onset. The abnormality appears to inhibit the binding of vitamin B6 to the enzyme glutamic acid decarboxylase-1, which is needed for the biosynthesis of gamma-aminobutyric acid (GABA). Most patients with pyridoxine-dependent seizures require lifelong treatment with pyridoxine. The full range of associated symptomatology is unknown since fewer than 100 cases have been reported. A majority of cases are mentally retarded. We report a 15-year-old boy with pyridoxine-dependent seizures, nonpyridoxine-dependent seizures, severe mental retardation, autistic disorder, aerophagia, breath holding, and self-injury. This complex outcome should alert clinicians to the wide range of neuropsychiatric outcomes associated with this disorder.

PMID: 11108513 [PubMed - indexed for MEDLINE]

Patient Drug Information

  • Pyridoxine

    Pyridoxine, vitamin B6, is required by your body for utilization of energy in the foods you eat, production of red blood cells, and proper functioning of nerves. It is used to treat and prevent vitamin B6 deficiency resu...

  • Source: AHFS Consumer Medication Information