Rare Nephrology News
Advertisement
Disease Profile
Pyridoxine-dependent epilepsy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Antenatal
ICD-10
G40.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Pyridoxine dependency; Pyridoxine dependency with seizures; Vitamin B6-dependent seizures;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Pyridoxine-dependent
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Abnormality of movement |
Movement disorder
Unusual movement
[ more ] |
0100022 |
0002353 | ||
Global developmental delay | 0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
30%-79% of people have these symptoms | ||
Muscular |
Low or weak muscle tone
|
0001252 |
5%-29% of people have these symptoms | ||
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Ventriculomegaly | 0002119 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Bilateral tonic-clonic seizure |
Grand mal seizures
|
0002069 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Fetal distress | 0025116 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Generalized myoclonic seizure | 0002123 | |
Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] |
0002643 |
Prenatal movement abnormality | 0001557 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Cause
The ALDH7A1 gene provides instructions for making an
When antiquitin is deficient, a
Some individuals with pyridoxine-dependent epilepsy do not have identified mutations in the ALDH7A1 gene. In these cases, the cause of the condition is unknown.[1]
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include other causes of neonatal epileptic encephalopathy such as inborn errors of metabolism (e.g. glucose transporter type I deficiency, 4-hydroxybutyric aciduria and molybdenum cofactor deficiency), single gene defects and fetal or neonatal brain injury. Pyridoxal phosphate-responsive seizures, hyperprolinemia type 2 and infantile hypophosphatasia (see these terms) should also be excluded.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Providing General Support
-
Epilepsy Foundation
8301 Professional Place East
Suite 230
Landover, MD 20785
Toll-free: 800-332-1000 (24/7 Helpline)
Telephone: +1-301-459-3700
Fax: +1-301-577-2684
E-mail: [email protected]
Website: https://www.epilepsy.com/
en Español 1-866-748-8008
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Pyridoxine-dependent epilepsy. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pyridoxine-dependent epilepsy. Click on the link to view a sample search on this topic.
References
- Pyridoxine-dependent epilepsy. Genetics Home Reference (GHR). 2013; https://ghr.nlm.nih.gov/condition=pyridoxinedependentepilepsy. Accessed 7/23/2013.
- Gospe SM. Pyridoxine-Dependent Seizures. GeneReviews. 2012; https://www.ncbi.nlm.nih.gov/books/NBK1486/. Accessed 7/23/2013.
- van Karnebeek CD et al. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012 Nov;107(3):335-44. .
Rare Nephrology News