Overview
Pyridoxal 5-phosphate dependent epilepsy is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Epileptic encephalopathy
Very frequent (80-99%)HP:0200134
Prolonged seizure
Very frequent (80-99%)HP:0002133
Abnormality of the amniotic fluid
Frequent (30-79%)HP:0001560
Decreased CSF homovanillic acid concentration
Frequent (30-79%)HP:0003785
EEG with burst suppression
Frequent (30-79%)HP:0010851
Epilepsy
Frequent (30-79%)HP:0001250
Eye movement issue
Frequent (30-79%)HP:0000496
Feeding difficulties
Frequent (30-79%)HP:0011968
Generalised brain degeneration
Frequent (30-79%)HP:0002283
High-pitched cry
Frequent (30-79%)HP:0025430
Higher than normal levels of lactate in blood
Frequent (30-79%)HP:0002151
Hypertonia
Frequent (30-79%)HP:0001276
Hypoargininemia
Frequent (30-79%)HP:0005961
Jerking
Frequent (30-79%)HP:0001336
Low APGAR score
Frequent (30-79%)HP:0030917
Low blood sugar
Frequent (30-79%)HP:0001943
Metabolic acidosis
Frequent (30-79%)HP:0001942
Premature birth
Frequent (30-79%)HP:0001622
Undergrowth
Frequent (30-79%)HP:0001508
Unsteady walk
Frequent (30-79%)HP:0002317
Abnormal circulating arginine concentration
Occasional (5-29%)HP:0010909
Abnormal circulating glycine concentration
Occasional (5-29%)HP:0010895
Abnormal circulating threonine concentration
Occasional (5-29%)HP:0010900
Abnormal circulating tyrosine concentration
Occasional (5-29%)HP:0010917
Abnormality of histidine metabolism
Occasional (5-29%)HP:0010904
Decreased size of cranium
Occasional (5-29%)HP:0000252
Pyridoxine-responsive sideroblastic anemia
Occasional (5-29%)HP:0005522
Encephalopathy
HP:0001298
Feeding difficulties in infancy
HP:0008872
Low number of red blood cells or haemoglobin
HP:0001903
Related Conditions
Disorder of neurometabolic regulation(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of endocrine system(parent)
Hereditary disorder of nervous system(parent)
Congenital disease(parent)
DEE - developmental and epileptic encephalopathy(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 724576005
- UMLS CUI
- C1864723
- Fully Specified Name
- Pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.