{"Name":"Pyruvate dehydrogenase phosphatase deficiency","DiseaseID__c":"GARD:0009888","id":9888,"encodedName":"pyruvate-dehydrogenase-phosphatase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Pyruvate dehydrogenase phosphatase deficiency","Xref_IDs__c":"1003847003; C1837429; C536258; MEDGEN:332448; MONDO:0012120; OMIM:608782; ORPHA:79246","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012120","Disease_Description__c":"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.","GARD_Name__c":"Pyruvate dehydrogenase phosphatase deficiency","GARD_Synonym__c":"lactic acidemia with pyruvate dehydrogenase phosphatase deficiency; pdh phosphatase deficiency; pdhpd","Curated_Disease_Description_Source__c":"MONDO:0012120","Curated_Disease_Description__c":"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79246","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012120","ORPHANET_ID__c":"ORPHA:79246","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de piruvato deshidrogenasa fosfatasa","Spanish_Description_Source__c":"ORPHA:79246","Spanish_Description__c":"El déficit de piruvato deshidrogenasa fosfatasa es un subtipo muy raro de déficit de piruvato deshidrogenasa (PDHD, consulte este término) caracterizado por academia láctica en el periodo neonatal.","Spanish_Disease_Name__c":"deficiencia de piruvato deshidrogenasa fosfatasa","Spanish_GARD_Synonym__c":"deficiencia de pdh fosfatasa","Category_Linearization__c":"ORPHA:68367","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":"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.","Curated_Disease_Description_Source__c":"MONDO:0012120","GARD_Synonym__c":"lactic acidemia with pyruvate dehydrogenase phosphatase deficiency; pdh phosphatase deficiency; pdhpd","Name":"Pyruvate dehydrogenase phosphatase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79246"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79246"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1837429"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009888","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK571223","Source__c":"Gene Review","Xref__c":"NBK571223"},{"URL__c":"https://www.orpha.net/en/disease/detail/79246","Source__c":"C1837429; MONDO:0012120; ORPHA:79246","Xref__c":"ORPHA:79246"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536258","Source__c":"MONDO:0012120","Xref__c":"C536258"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332448","Source__c":"C1837429","Xref__c":"MEDGEN:332448"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837429","Source__c":"C1837429","Xref__c":"C1837429"},{"URL__c":"https://www.omim.org/entry/608782","Source__c":"C1837429; MONDO:0012120; ORPHA:79246","Xref__c":"OMIM:608782"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012120","Source__c":"GARD:0009888","Xref__c":"MONDO:0012120"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1003847003","Source__c":"C1837429","Xref__c":"1003847003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PDP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pdp1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040328","HPO_Name__c":"Focal hyperintensity of cerebral white matter on MRI","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:79246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A mild delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011342","HPO_Synonym__c":"Global developmental delay, mild","HPO_Name__c":"Mild global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79246","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002928","HPO_Synonym__c":"Decreased activity of the PDH complex; Pyruvate dehydrogenase complex deficiency","HPO_Name__c":"Decreased activity of the pyruvate dehydrogenase complex","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of lactic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003648","HPO_Synonym__c":"High urine lactic acid levels; Increased urine lactate","HPO_Name__c":"Lacticaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79246","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:79246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of metabolism or structure of the brain identified by imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410263","HPO_Synonym__c":"Abnormal brain imaging","HPO_Name__c":"Brain imaging abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79246","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:79246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of alanine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003348","HPO_Synonym__c":"Increased blood alanine; Increased serum alanine","HPO_Name__c":"Hyperalaninemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79246","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of proline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008358","HPO_Synonym__c":"Prolinemia","HPO_Name__c":"Hyperprolinemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial","Peripheral Neuropathy","Epilepsy"]},"synonyms":["lactic acidemia with pyruvate dehydrogenase phosphatase deficiency"," pdh phosphatase deficiency"," pdhpd"]}