{"Name":"Pyridoxal phosphate-responsive seizures","DiseaseID__c":"GARD:0010730","id":10730,"encodedName":"pyridoxal-phosphate-responsive-seizures","IsDeleted":false,"Disease_Name_Full__c":"Pyridoxal phosphate-responsive seizures","Xref_IDs__c":"724576005; C1864723; C566449; DOID:0111329; MEDGEN:350498; MONDO:0012407; OMIM:610090; ORPHA:79096","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012407","Disease_Description__c":"A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.","GARD_Name__c":"Pyridoxal phosphate-responsive seizures","GARD_Synonym__c":"epileptic encephalopathy, neonatal, pnpo-related; p5pd developmental and epileptic encephalopathy; p5pd-dee - pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy; pnpo deficiency; pnpo-dee - pyridoxamine 5-phosphate oxidase developmental and epileptic encephalopathy; pnpo-related neonatal epileptic encephalopathy; pnpod; pyridox(am)ine 5’-phosphate oxidase deficiency; pyridoxal 5-phosphate dependent epilepsy; pyridoxal phosphate-dependent seizures; pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxamine 5'-oxidase deficiency; pyridoxamine 5'-phosphate deficiency developmental and epileptic encephalopathy; pyridoxamine 5'-phosphate oxidase deficiency; pyridoxine 5' phosphate oxidase deficiency; pyridoxine-5'-phosphate oxidase deficiency; seizures, pyridoxine-resistant, plp-sensitive","Curated_Disease_Description_Source__c":"GARD:0010730","Curated_Disease_Description__c":"Pyridoxal phosphate-responsive seizures (sometimes called pyridoxamine 5'-phosphate oxidase deficiency or PNPO deficiency)  is a condition in which repeated seizures (epilepsy) typically begin within the first two weeks of life. In approximately 10 percent of individuals with PNPO deficiency, the seizures have a later onset, beginning after the first month of life. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, or convulsions. In some cases, the seizures may last for several minutes or the seizures may occur too close together to allow for recovery between episodes (status epilepticus). Some babies with PNPO deficiency will experience seizures before birth, and some will experience a slow heart rate and a lack of oxygen before delivery (fetal distress).  Anticonvulsant medications, which are usually given to control seizures, are not effective in people with PNPO deficiency.   Instead, individuals with PNPO deficiency require lifelong treatment with one of the following forms of vitamin B6: pyridoxal 5'-phosphate (PLP) or pyridoxine. If untreated, people with this condition can develop severe brain dysfunction (encephalopathy), which can lead to death.  Even though seizures can be controlled with PLP or pyridoxine, people with PNPO deficiency may still experience neurological problems such as developmental delays, learning disorders, and uncontrolled movements (dystonia). Other conditions present with signs and symptoms that are very similar to those seen in people with PNPO deficiency. These include pyridoxine-dependent epilepsy caused by changes in the ALDH7A1 gene and PLPBP deficiency caused by changes in the PLPBP gene. Individuals with these conditions are also typically treated with a form of vitamin B6.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79096","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012407","ORPHANET_ID__c":"ORPHA:79096","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía epiléptica y del desarrollo por deficiencia de piridoxamina-5-fosfato","Spanish_Description_Source__c":"ORPHA:79096","Spanish_Description__c":"Es una encefalopatía epiléptica neonatal muy poco frecuente que se caracteriza clínicamente por la aparición de crisis graves en las primeras horas del nacimiento que no responden a anticonvulsivos, pero que responden al tratamiento con piridoxal fosfato.","Spanish_Disease_Name__c":"encefalopatía epiléptica y del desarrollo por deficiencia de piridoxamina-5-fosfato","Spanish_GARD_Synonym__c":"crisis dependientes de piridoxal fosfato; crisis sensibles al piridoxal fosfato; deficiencia de piridoxamina 5'-fosfato oxidasa; eed-p5pd; encefalopatía epiléptica neonatal asociada a pnpo","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Pyridoxal phosphate-responsive seizures (sometimes called pyridoxamine 5'-phosphate oxidase deficiency or PNPO deficiency)  is a condition in which repeated seizures (epilepsy) typically begin within the first two weeks of life. In approximately 10 percent of individuals with PNPO deficiency, the seizures have a later onset, beginning after the first month of life. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, or convulsions. In some cases, the seizures may last for several minutes or the seizures may occur too close together to allow for recovery between episodes (status epilepticus). Some babies with PNPO deficiency will experience seizures before birth, and some will experience a slow heart rate and a lack of oxygen before delivery (fetal distress).  Anticonvulsant medications, which are usually given to control seizures, are not effective in people with PNPO deficiency.   Instead, individuals with PNPO deficiency require lifelong treatment with one of the following forms of vitamin B6: pyridoxal 5'-phosphate (PLP) or pyridoxine. If untreated, people with this condition can develop severe brain dysfunction (encephalopathy), which can lead to death.  Even though seizures can be controlled with PLP or pyridoxine, people with PNPO deficiency may still experience neurological problems such as developmental delays, learning disorders, and uncontrolled movements (dystonia). Other conditions present with signs and symptoms that are very similar to those seen in people with PNPO deficiency. These include pyridoxine-dependent epilepsy caused by changes in the ALDH7A1 gene and PLPBP deficiency caused by changes in the PLPBP gene. Individuals with these conditions are also typically treated with a form of vitamin B6.","Curated_Disease_Description_Source__c":"GARD:0010730","GARD_Synonym__c":"epileptic encephalopathy, neonatal, pnpo-related; p5pd developmental and epileptic encephalopathy; p5pd-dee - pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy; pnpo deficiency; pnpo-dee - pyridoxamine 5-phosphate oxidase developmental and epileptic encephalopathy; pnpo-related neonatal epileptic encephalopathy; pnpod; pyridox(am)ine 5’-phosphate oxidase deficiency; pyridoxal 5-phosphate dependent epilepsy; pyridoxal phosphate-dependent seizures; pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxamine 5'-oxidase deficiency; pyridoxamine 5'-phosphate deficiency developmental and epileptic encephalopathy; pyridoxamine 5'-phosphate oxidase deficiency; pyridoxine 5' phosphate oxidase deficiency; pyridoxine-5'-phosphate oxidase deficiency; seizures, pyridoxine-resistant, plp-sensitive","Name":"Pyridoxal phosphate-responsive seizures","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79096"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79096"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1864723"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010730","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK581452","Source__c":"Gene Review","Xref__c":"NBK581452"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111329","Source__c":"MONDO:0012407","Xref__c":"DOID:0111329"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724576005","Source__c":"C1864723; MONDO:0012407","Xref__c":"724576005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350498","Source__c":"C1864723","Xref__c":"MEDGEN:350498"},{"URL__c":"https://www.omim.org/entry/610090","Source__c":"C1864723; MONDO:0012407; ORPHA:79096","Xref__c":"OMIM:610090"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566449","Source__c":"MONDO:0012407","Xref__c":"C566449"},{"URL__c":"https://www.orpha.net/en/disease/detail/79096","Source__c":"C1864723; MONDO:0012407; ORPHA:79096","Xref__c":"ORPHA:79096"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864723","Source__c":"C1864723","Xref__c":"C1864723"},{"URL__c":"https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures","Source__c":"GARD:0010730","Xref__c":"https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012407","Source__c":"GARD:0010730","Xref__c":"MONDO:0012407"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PNPO","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pnpo","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001560","HPO_Synonym__c":"Abnormal amniotic fluid","HPO_Name__c":"Abnormality of the amniotic fluid","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of tyrosine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010917","HPO_Name__c":"Abnormal circulating tyrosine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of arginine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010909","HPO_Synonym__c":"Abnormality of arginine metabolism","HPO_Name__c":"Abnormal circulating arginine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of arginine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005961","HPO_Synonym__c":"Low blood arginine levels","HPO_Name__c":"Hypoargininemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005522","HPO_Name__c":"Pyridoxine-responsive sideroblastic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010851","HPO_Name__c":"EEG with burst suppression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003785","HPO_Name__c":"Decreased CSF homovanillic acid concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002283","HPO_Synonym__c":"Diffuse brain atrophy; Generalized brain atrophy; Generalized brain degeneration; Generalized cerebral atrophy","HPO_Name__c":"Global brain atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of crying in an abnormally high-pitched voice.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025430","HPO_Name__c":"High-pitched cry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002133","HPO_Synonym__c":"Prolonged seizure; Repeated seizure without recovery; Repeated seizures without recovery between them","HPO_Name__c":"Status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001336","HPO_Synonym__c":"Myoclonic jerks","HPO_Name__c":"Myoclonus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of glycine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010895","HPO_Name__c":"Abnormal circulating glycine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200134","HPO_Synonym__c":"Convulsive encephalopathy","HPO_Name__c":"Epileptic encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of threonine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010900","HPO_Synonym__c":"Abnormality of threonine metabolism","HPO_Name__c":"Abnormal circulating threonine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of a histidine metabolic process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010904","HPO_Synonym__c":"Abnormality of histidine metabolism","HPO_Name__c":"Abnormal circulating histidine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79096","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030917","HPO_Name__c":"Low APGAR score","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["epileptic encephalopathy, neonatal, pnpo-related"," p5pd developmental and epileptic encephalopathy"," p5pd-dee - pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy"," pnpo deficiency"," pnpo-dee - pyridoxamine 5-phosphate oxidase developmental and epileptic encephalopathy"," pnpo-related neonatal epileptic encephalopathy"," pnpod"," pyridox(am)ine 5’-phosphate oxidase deficiency"," pyridoxal 5-phosphate dependent epilepsy"," pyridoxal phosphate-dependent seizures"," pyridoxamine 5-phosphate deficiency developmental and epileptic encephalopathy"," pyridoxamine 5-prime-phosphate oxidase deficiency"," pyridoxamine 5'-oxidase deficiency"," pyridoxamine 5'-phosphate deficiency developmental and epileptic encephalopathy"," pyridoxamine 5'-phosphate oxidase deficiency"," pyridoxine 5' phosphate oxidase deficiency"," pyridoxine-5'-phosphate oxidase deficiency"," seizures, pyridoxine-resistant, plp-sensitive"]}