Rare Neurology News
Disease Profile
Pyridoxal 5′-phosphate-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
Infancy
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-5'-phosphate oxidase deficiency; PNPO Deficiency; Pyridoxamine 5-prime-phosphate oxidase deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Pyridoxal 5'-phosphate-dependent
Pyridoxal 5'-phosphate-dependent epilepsy is caused by changes or
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 | ||
| Epileptic |
0200134 | |
| Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
| 30%-79% of people have these symptoms | ||
| Abnormality of eye movement |
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] |
0000496 |
| Abnormality of the amniotic fluid | 0001560 | |
| Decreased CSF homovanillic acid | 0003785 | |
| 0010851 | ||
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Global brain atrophy |
Generalized brain degeneration
|
0002283 |
| Global |
0001263 | |
| High-pitched cry | 0025430 | |
| Hypertonia | 0001276 | |
| Hypoargininemia |
Low blood arginine levels
|
0005961 |
|
Low blood sugar
|
0001943 | |
| Increased serum lactate | 0002151 | |
| Low APGAR score | 0030917 | |
| Metabolic acidosis | 0001942 | |
| Muscular |
Low muscle tone in trunk
|
0008936 |
| Myoclonus | 0001336 | |
| Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
| Unsteady gait |
Unsteady walk
|
0002317 |
| 5%-29% of people have these symptoms | ||
| Abnormal circulating glycine concentration | 0010895 | |
| Abnormal circulating histidine concentration | 0010904 | |
| Abnormal circulating threonine concentration | 0010900 | |
| Abnormal circulating tyrosine concentration | 0010917 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Pyridoxine-responsive sideroblastic |
0005522 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
| 0000007 | ||
| Encephalopathy | 0001298 | |
| Feeding difficulties in infancy | 0008872 | |
| Progressive microcephaly |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ] |
0000253 |
| Rotary |
0001583 | |
| 0001250 | ||
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.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
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
- MedlinePlus Genetics contains information on Pyridoxal 5'-phosphate-dependent epilepsy. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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 Pyridoxal 5'-phosphate-dependent epilepsy. Click on the link to view a sample search on this topic.
References
- Guerin A, Aziz AS, Mutch C, Lewis J, Go CY, and Mercimek-Mahmutoglu S. Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature. J Child Neurol. August 2015; 30(9):1218-25. https://www.ncbi.nlm.nih.gov/pubmed/25296925.
- Veeravigrom M, Damrongphol P, Ittiwut R, Ittiwut C, Suphapeetiporn K, and Shotelersuk V. Pyridoxal 5'-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report. Genet Mol Res. October 30 2015; 14(4):14310-5. https://www.ncbi.nlm.nih.gov/pubmed/26535729.
- Kniffen CL. Pyridoxal 5-Prime-Phosphate Oxidase Deficiency. Online Mendelian Inheritance in Man. March 1 2016; https://www.omim.org/entry/610090.
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