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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pyridoxine-dependent epilepsy


Other Names for this Disease

  • Pyridoxine dependency
  • Pyridoxine dependency with seizures
  • Vitamin B6-dependent seizures
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What symptoms are associated with pyridoxine-dependent epilepsy?

Those affected by pyridoxine-dependent epilepsy typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.  If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur.[1]
Last updated: 7/23/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxine-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of metabolism/homeostasis 90%
Abnormality of movement 90%
Cognitive impairment 90%
EEG abnormality 90%
Neurological speech impairment 90%
Seizures 90%
Muscular hypotonia 50%
Cerebral cortical atrophy 7.5%
Hepatomegaly 7.5%
Strabismus 7.5%
Ventriculomegaly 7.5%
Autosomal recessive inheritance -
Delayed speech and language development -
Generalized myoclonic seizures -
Generalized tonic-clonic seizures -
Intellectual disability -
Neonatal respiratory distress -
Prenatal movement abnormality -
Respiratory distress -
Status epilepticus -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Pyridoxine-dependent epilepsy. Genetics Home Reference (GHR). 2013; http://ghr.nlm.nih.gov/condition=pyridoxinedependentepilepsy. Accessed 7/23/2013.


Other Names for this Disease
  • Pyridoxine dependency
  • Pyridoxine dependency with seizures
  • Vitamin B6-dependent seizures
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.