Pyridoxal phosphate-responsive seizures

General Information (adopted from Orphanet):

Synonyms, Signs: EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED
SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE
Pyridoxamine 5&#39
-oxidase deficiency
Pyridoxa-phosphate dependent seizures
PNPO-related neonatal epileptic encephalopathy
pnpo deficiency
Pyridoxamine 5&#39
-phosphate oxidase deficiency
Number of Symptoms 33
OrphanetNr: 79096
OMIM Id: 610090
ICD-10: G40.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of other vitamins and cofactors metabolism and transport
 -Rare genetic disease
Disorder of pyridoxine metabolism
 -Rare genetic disease
Metabolic neurotransmission anomaly with epilepsy
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000253) Progressive microcephaly 37 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0001298) Encephalopathy 72 / 7739
4
 (HPO:0003785) Decreased CSF homovanillic acid 7 / 7739
5
 (HPO:0001336) Myoclonus 115 / 7739
6
 (HPO:0001622) Premature birth 100 / 7739
7
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
8
 (HPO:0011968) Feeding difficulties 240 / 7739
9
 (HPO:0001508) Failure to thrive 454 / 7739
10
 (HPO:0001903) Anemia 289 / 7739
11
 (HPO:0001942) Metabolic acidosis 81 / 7739
12
 (HPO:0001943) Hypoglycemia 131 / 7739
13
 (HPO:0002151) Increased serum lactate 92 / 7739
14
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
15
 (OMIM) Normal to increased plasma threonine 1 / 7739
16
 (OMIM) Increased CSF taurine 1 / 7739
17
 (OMIM) Normal to increased plasma glycine 1 / 7739
18
 (OMIM) Partial response to pyridoxine 1 / 7739
19
 (OMIM) Decreased CSF 5-hydroxyindoleacetic acid (5-HIAA) 2 / 7739
20
 (OMIM) Decreased CSF arginine 1 / 7739
21
 (OMIM) Neonatal epileptic encephalopathy (NEE) 1 / 7739
22
 (OMIM) Increased urine vanillactic acid (VLA) 1 / 7739
23
 (MedDRA:10002944) Apgar score low 1 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (OMIM) Increased CSF histidine 1 / 7739
26
 (OMIM) Increased CSF threonine 1 / 7739
27
 (OMIM) Burst suppression on EEG 1 / 7739
28
 (OMIM) Response to pyridoxal phosphate 1 / 7739
29
 (OMIM) Increased CSF 3-methoxytyrosine (3-MT) 1 / 7739
30
 (OMIM) Decreased CSF pyridoxal 5-prime-phosphate (PLP) 1 / 7739
31
 (OMIM) Increased CSF glycine 1 / 7739
32
 (OMIM) Decreased CSF pyridoxal 1 / 7739
33
 (OMIM) Decreased plasma arginine 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brautigam et al. (2002) described twins, born of first-cousin parents, who were born at 29 weeks' gestation and suffered from birth from severe convulsions, myoclonus, rotatory eye movements, sudden clonic contractions, burst suppression electroencephalogram (EEG), hypoglycemia, and acidosis. ...
Molecular genetics OMIM Among 5 patients in 3 families with neonatal epileptic encephalopathy, Mills et al. (2005) found evidence in cerebrospinal fluid and urine for reduced activity of aromatic L-amino acid decarboxylase (AADC; 107930) and other PLP-dependent enzymes. Seizures ceased with ...