{"orpha":941,"name":"D-glyceric aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["D-glycerate kinase deficiency","D-glyceric acidemia"],"definition":"A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-941/","orphanet_url":"https://www.orpha.net/en/disease/detail/941","names":{"fr":{"name":"Acidurie D-glycérique","synonyms":["Acidémie D-glycérique","Déficit en D-glycérate kinase"],"definition":"Erreurs innées du métabolisme rares caractérisées par une excrétion urinaire anormale d'acide D-glycérique due à un déficit en D-glycérate kinase. Les manifestations rapportées sont très variables et comprennent une encéphalopathie sévère, une acidose métabolique chronique, un retard de développement, une déficience intellectuelle, une microcéphalie, des crises convulsives, des troubles du comportement, ainsi qu'un léger retard de langage et un développement apparemment normal."},"de":{"name":"D-Glycerat-Kinase-Mangel","synonyms":["D-Glyceratazidurie"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch eine abnorme Ausscheidung von D-Glycerinsäure im Urin aufgrund eines D-Glycerat-Kinase-Mangels gekennzeichnet ist. Die berichteten Manifestationen sind sehr unterschiedlich und umfassen ein schweres enzephalopathisches Bild, chronische metabolische Azidose, Entwicklungsverzögerung, Intelligenzminderung, Mikrozephalie, Krampfanfälle, Verhaltensauffälligkeiten sowie eine nur leichte Sprachverzögerung und scheinbar normale Entwicklung."},"es":{"name":"Aciduria D-glicérica","synonyms":["Acidemia D-glicérica","Deficiencia de D-glicerato quinasa"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por la excreción urinaria anómala de ácido D-glicérico por deficiencia de D-glicerato quinasa. Las manifestaciones descritas son altamente variables e incluyen un cuadro encefalopático grave, acidosis metabólica crónica, retraso del desarrollo, discapacidad intelectual, microcefalia, crisis y trastornos de la conducta, así como un leve retraso del habla y un desarrollo aparentemente normal."},"it":{"name":"Aciduria D-glicerica","synonyms":["Aciedmia D-glicerica","Deficit di D-glicerato chinasi"],"definition":"Si tratta di un errore congenito raro del metabolismo, caratterizzato da anomalie dell'escrezione urinaria dell'acido D-glicerico, secondarie al deficit di D-glicerato chinasi. I segni clinici sono molto variabili e comprendono un'encefalopatia grave, un'acidosi metabolica cronica, il ritardo dello sviluppo, la disabilità intellettiva, la microcefalia, le crisi epilettiche, le anomalie comportamentali e un lieve ritardo del linguaggio. Lo sviluppo sembra normale."},"nl":{"name":"D-glycerinezuuracidurie","synonyms":["D-glycerinezuuracidemie","Deficiëntie van D-glyceraatkinase"],"definition":"Een zeldzaam aangeboren defect van stofwisseling, gekarakteriseerd door abnormale excretie van D-glycerinezuur in urine door deficiëntie van D-glyceraatkinase. Gerapporteerde manifestaties zijn zeer variabel, en omvatten onder meer een ernstig encefalopathisch beeld, chronische metabole acidose, ontwikkelingsachterstand, intellectuele achterstand, microcefalie, insulten, en gedragsafwijkingen, alsook slechts milde spraakachterstand en klaarblijkelijk normale ontwikkeling."},"pt":{"name":"Acidúria D-glicérica","synonyms":["Acidemia D-glicérica","Deficiência de D-glicerato cinase"]},"pl":{"name":"Acyduria D-glicerynowa","synonyms":["Kwasica D-glicerynowa","Niedobór kinazy D-glicerynowej"]},"cs":{"name":"D-glycerová acidurie","synonyms":["Deficit D-glycerát kinázy","D-glycerová acidémie"]},"uk":{"name":"D-гліцеринова ацидурія","synonyms":["Дефіцит D-гліцераткінази","D-гліцеринова ацидемія"],"definition":"A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development."},"zh":{"name":"D-甘油酸尿症","synonyms":["D-甘油酸激酶缺乏症"]},"tr":{"name":"D-gliserik asidüri","synonyms":["D-gliserik asidemi","D-gliserat kinaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"220120","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1739985468"},{"source":"MONDO","code":"0009070","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342765","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"234","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308998,"name":"Disorder of glyoxylate metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GLYCTK","name":"glycerate kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20949620[PMID]","hgnc":"24247","ensembl":"ENSG00000168237","omim":"610516","loci":["3p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-17","source":"26247153[PMID]_30637540[PMID]_28462797[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002448","label":"Progressive encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002154","label":"Hyperglycinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003108","label":"Hyperglycinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500230","label":"Increased CSF glycine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030781","label":"Increased circulating free fatty acid level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008288","label":"Nonketotic hyperglycinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012736","label":"Profound global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Occasional (29-5%)","criteria":null}]}}