MCID: PYR015
MIFTS: 17

Pyridoxal 5'-Phosphate-Dependent Epilepsy

Categories: Rare diseases

Aliases & Classifications for Pyridoxal 5'-Phosphate-Dependent Epilepsy

MalaCards integrated aliases for Pyridoxal 5'-Phosphate-Dependent Epilepsy:

Name: Pyridoxal 5'-Phosphate-Dependent Epilepsy 49 24 28
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 49 24 69
Pnpo-Related Neonatal Epileptic Encephalopathy 49 24
Pyridoxine-5'-Phosphate Oxidase Deficiency 49 24
Pnpo Deficiency 49 24
Pyridox Ine-5'-Phosphate Oxidase Deficiency 36

Classifications:



External Ids:

KEGG 36 H01124
UMLS 69 C1864723

Summaries for Pyridoxal 5'-Phosphate-Dependent Epilepsy

NIH Rare Diseases : 49 Pyridoxal 5'-phosphate-dependent epilepsy is a rare genetic metabolic disorder. Babies born with this disorder are not able to make enough Vitamin B6 and this causes the baby to start having seizures soon after they are born (also called early onset or neonatal onset seizures). The normal drugs to treat seizures (anti-seizure medications or anti-convulsants) do not work for these babies, however seizures can be controlled by pyridoxal 5'-phosphate (the active form of Vitamin B6). Published studies in 2015 have shown that some babies with pyridoxal 5'-phosphate-dependent epilepsy also respond well to pyridoxene (a different form of Vitamin B6).  Pyridoxal 5'-phosphate-dependent epilepsy is caused by changes or mutations in the PNPO gene and is inherited in an autosomal recessive manner. Diagnosis is suspected by early onset of seizures which are not controlled by normal anti-seizure medications. Genetic testing is used to confirm the diagnosis. The disorder is fatal without treatment. Early treatment is important to decrease the chance of long term developmental delays.  Some babies with early treatment have developed normally without any intellectual disabilities. There are less than 50 known cases of pyridoxal 5'-phosphate-dependent epilepsy as of 2015.   Last updated: 9/23/2016

MalaCards based summary : Pyridoxal 5'-Phosphate-Dependent Epilepsy, also known as pyridoxamine 5-prime-phosphate oxidase deficiency, is related to pyridoxamine 5-prime-phosphate oxidase deficiency and epilepsy, and has symptoms including seizures and myoclonus. An important gene associated with Pyridoxal 5'-Phosphate-Dependent Epilepsy is PNPO (Pyridoxamine 5'-Phosphate Oxidase), and among its related pathways/superpathways is Vitamin B6 metabolism. Affiliated tissues include testes, heart and eye.

Genetics Home Reference : 24 Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. Most babies with this condition are born prematurely and may have a temporary, potentially toxic, increase in lactic acid in the blood (lactic acidosis). Additionally, some infants have a slow heart rate and a lack of oxygen during delivery (fetal distress).

Related Diseases for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Diseases related to Pyridoxal 5'-Phosphate-Dependent Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyridoxamine 5-prime-phosphate oxidase deficiency 11.6
2 epilepsy 10.2

Symptoms & Phenotypes for Pyridoxal 5'-Phosphate-Dependent Epilepsy

UMLS symptoms related to Pyridoxal 5'-Phosphate-Dependent Epilepsy:


seizures, myoclonus

Drugs & Therapeutics for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Search Clinical Trials , NIH Clinical Center for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Genetic Tests for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Genetic tests related to Pyridoxal 5'-Phosphate-Dependent Epilepsy:

# Genetic test Affiliating Genes
1 Pyridoxal 5'-Phosphate-Dependent Epilepsy 28 PNPO

Anatomical Context for Pyridoxal 5'-Phosphate-Dependent Epilepsy

MalaCards organs/tissues related to Pyridoxal 5'-Phosphate-Dependent Epilepsy:

38
Testes, Heart, Eye

Publications for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Articles related to Pyridoxal 5'-Phosphate-Dependent Epilepsy:

# Title Authors Year
1
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. ( 21292558 )
2011

Variations for Pyridoxal 5'-Phosphate-Dependent Epilepsy

ClinVar genetic disease variations for Pyridoxal 5'-Phosphate-Dependent Epilepsy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PNPO NM_018129.3(PNPO): c.685C> T (p.Arg229Trp) single nucleotide variant Pathogenic rs104894629 GRCh37 Chromosome 17, 46024047: 46024047
2 PNPO NM_018129.3(PNPO): c.364_417del54 single nucleotide variant Pathogenic rs774710082 GRCh37 Chromosome 17, 46022924: 46022924
3 PNPO NM_018129.3(PNPO): c.784T> C (p.Ter262Gln) single nucleotide variant Pathogenic rs104894631 GRCh37 Chromosome 17, 46024146: 46024146
4 PNPO NM_018129.3(PNPO): c.520C> T (p.Gln174Ter) single nucleotide variant Pathogenic rs267606958 GRCh37 Chromosome 17, 46023329: 46023329
5 PNPO NM_018129.3(PNPO): c.448_451delCCTG (p.Pro150Argfs) deletion Pathogenic/Likely pathogenic rs796052872 GRCh37 Chromosome 17, 46023257: 46023260
6 PNPO NM_018129.3(PNPO): c.674G> A (p.Arg225His) single nucleotide variant Pathogenic rs550423482 GRCh38 Chromosome 17, 47946670: 47946670

Expression for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Search GEO for disease gene expression data for Pyridoxal 5'-Phosphate-Dependent Epilepsy.

Pathways for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Pathways related to Pyridoxal 5'-Phosphate-Dependent Epilepsy according to KEGG:

36
# Name Kegg Source Accession
1 Vitamin B6 metabolism hsa00750

GO Terms for Pyridoxal 5'-Phosphate-Dependent Epilepsy

Sources for Pyridoxal 5'-Phosphate-Dependent Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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