{"orpha":71212,"name":"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency","Hyperinsulinism due to SCHAD deficiency","Hyperinsulinism due to glutamodehydrogenase deficiency","SCHAD deficiency"],"definition":"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; <i>HADH</i> gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71212/","orphanet_url":"https://www.orpha.net/en/disease/detail/71212","names":{"fr":{"name":"Hyperinsulinisme par déficit en 3-hydroxylacyl-CoA déshydrogénase des acides gras à chaîne courte","synonyms":["Déficit en SCHAD","Hyperinsulinisme par déficit en SCHAD","Hyperinsulinisme par déficit en glutamodéshydrogénase","Hypoglycémie hyperinsulinémique par déficit en en 3-hydroxylacyl-CoA déshydrogénase des acides gras à chaîne courte"],"definition":"Forme rare d'hyperinsulinisme congénital diffus sensible au diazoxide par déficit en 3-hydroxylacyl-CoA déshydrogénase des acides gras à chaîne courte (SCHAD pour short chain 3 hydroxylacyl-CoA dehydrogenase ; gène <i>HADH</i>), caractérisée par une hypoglycémie hyperinsulinémique avec convulsions et bonne réponse au diazoxide. La maladie se manifeste par les signes classiques de l'hypoglycémie hyperinsulinémique. Les complications très rares comprennent la mort subite et, dans un seul cas, l'insuffisance hépatique aiguë."},"de":{"name":"Hyperinsulinismus durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel","synonyms":["Hyperinsulinismus durch Glutamatdehydrogenase-Mangel","Hyperinsulinismus durch SCHAD-Mangel","Hyperinsulinämische Hypoglykämie durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel","SCHAD-Mangel"],"definition":"Eine seltene Form des kongenitalen Diazoxid-sensitiven diffusen Hyperinsulinismus aufgrund eines Mangels an kurzkettiger 3-Hydroxylacyl-CoA-Dehydrogenase (SCHAD; <i>HADH</i>-Gen), die durch hyperinsulinämische Hypoglykämie mit Krampfanfällen gekennzeichnet ist und Berichten zufolge gut auf Diazoxid anspricht. Sie zeigt die klassischen Symptome einer hyperinsulinämischen Hypoglykämie. Zu den außergewöhnlichen Komplikationen gehören plötzlicher Tod und in einem Fall fulminantes Leberversagen."},"es":{"name":"Hiperinsulinismo por deficiencia de 3-hidroxilacil-CoA deshidrogenasa de cadena corta","synonyms":["Deficiencia de HADH","Deficiencia de SCHAD","Hiperinsulinismo por deficiencia de HADH","Hiperinsulinismo por deficiencia de SCHAD","Hiperinsulinismo por deficiencia de glutamodeshidrogenasa","Hipoglucemia hiperinsulinémica por deficiencia de 3-hidroxilacil-CoA deshidrogenasa de cadena corta"],"definition":"Es una forma poco frecuente de hiperinsulinismo difuso congénito sensible al diazóxido por deficiencia de hidroxilacil-CoA deshidrogenasa de cadena corta (SCHAD; gen <i>HADH</i>) y caracterizada por hipoglucemia hiperinsulinémica con crisis epilépticas y por la respuesta al diazóxido. Se presenta con las manifestaciones clásicas de la hipoglucemia hiperinsulinémica. Algunas complicaciones excepcionales incluyen la muerte súbita y, en un caso, la insuficiencia hepática fulminante."},"it":{"name":"Iperinsulinismo da deficit di 3-idrossiacil-CoA deidrogenasi a catena corta","synonyms":["Iperinsulinismo da deficit di 3-idrossiacil-CoA deidrogenasi a catena corta","Iperinsulinismo da deficit di HADH","Iperinsulinismo da deficit di SCHAD","Iperinsulinismo da deficit di glutammato deidrogenasi","Ipoglicemia iperinsulinemica da deficit di 3-idrossiacil-CoA deidrogenasi","Ipoglicemia iperinsulinemica da deficit di 3-idrossilacil-CoA deidrogenasi a catena corta"],"definition":"L'iperinsulinismo da deficit della 3 idrossiacil-CoA deidrogenasi a catena corta (SCHAD) è un nuovo difetto dell'ossidazione mitocondriale degli acidi grassi, caratterizzato da ipoglicemia iperinsulinemica, associata a convulsioni e, in un caso, a insufficienza epatica fulminante."},"nl":{"name":"Hyperinsulinisme door deficiëntie van korte-keten-3-hydroxylacyl-CoA-dehydrogenase","synonyms":["Hyperinsulinemische hypoglycemie door deficiëntie van korte-keten-3-hydroxylacyl-CoA-dehydrogenase","Hyperinsulinisme door deficiëntie van SCHAD","Hyperinsulinisme door deficiëntie van glutamodehydrogenase","SCHAD-deficiëntie"],"definition":"Een zeldzame vorm van congenitaal diazoxidesensitief diffuus hyperinsulinisme door deficiëntie van korte-keten-3 hydroxylacyl-CoA-dehydrogenase (SCHAD; gen <i>HADH</i>), gekenmerkt door hyperinsulinemische hypoglycemie met insulten en volgens rapporten een goede reactie op diazoxide. De ziekte presenteert zich met de klassieke manifestaties van hyperinsulinemische hypoglycemie. Uitzonderlijke complicaties zijn onder meer plotselinge dood, en in één geval fulminant leverfalen."},"pt":{"name":"Deficiência de 3-hidroxilacil-CoA desidrogenase","synonyms":["Deficiência de 3-hidroxiacil-CoA desidrogenase de cadeias média e curtas","Deficiência de HAD","M/SCHAD"],"definition":"Forma rara de hiperinsulinismo difuso congénito sensível ao diazóxido, originado devido à deficiência de 3 hidroxilacil-CoA desidrogenase de cadeia curta (SCHAD; gene HADH) e caracterizada por hipoglicemia hiperinsulinémica com convulsões e descrito como sensível ao tratamento com diazóxido. Apresenta-se de acordo com as manifestações clássicas de hipoglicemia hiperinsulinémica. Complicações excecionais incluem morte súbita e, em um caso, insuficiência hepática letal."},"pl":{"name":"Hiperinsulinizm spowodowany niedoborem dehydrogenazy 3-hydroksyacyl-CoA","synonyms":["Niedobór SCHAD","Hiperinsulinizm spowodowany niedoborem SCHAD","Hiperinsulinizm spowodowany niedoborem glutamodehydrogenazy","Hiperinsulinizm spowodowany niedoborem dehydrogenazy krótkich łańcuchów 3-hydroksyacylo-CoA","Hiperinsulinizm spowodowany niedoborem dehydrogenazy 3-hydroksyacyl-CoA"],"definition":"Rzadka postać wrodzonego rozlanego hiperinsulinizmu wrażliwego na diazoksyd, spowodowana niedoborem krótkołańcuchowej dehydrogenazy 3-hydroksylacylo-CoA (gen SCHAD; HADH), charakteryzująca się hiperinsulinemiczną hipoglikemią z drgawkami i dobrze reagująca na diazoksyd. Przebiega a klasycznymi objawami hipoglikemii hiperinsulinemicznej. Wyjątkowo rzadkie powikłania obejmowały nagły zgon, a w jednym przypadku niewydolność wątroby o piorunującym przebiegu."},"cs":{"name":"Hyperinzulinismus způsobený deficitem dehydrogenázy 3-hydroxyacyl-CoA s krátkým řetězcem","synonyms":["Deficit HADH","Deficit SCHAD","Hyperinzulinemická hypoglykémie způsobená deficitem dehydrogenázy 3-hydroxyacyl-CoA s krátkým řetězcem","Hyperinzulinismus způsobený deficitem HADH","Hyperinzulinismus způsobený deficitem SCHAD","Hyperinzulinismus způsobený deficitem glutamátdehydrogenázy"]},"uk":{"name":"Гіперінсулінізм внаслідок дефіциту коротколанцюгової 3-гідроксилацил-КоА-дегідрогенази","synonyms":["Гіперінсулінемічна гіпоглікемія внаслідок дефіциту коротколанцюгової 3-гідроксилацил-КоА-дегідрогенази","Гіперінсулінізм через дефіцит глутамодегідрогенази","Гіперінсулінізм через дефіцит SCHAD","Дефіцит SCHAD"],"definition":"A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; <i>HADH</i> gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure."},"zh":{"name":"短链3-羟酰CoA脱氢酶缺乏所致高胰岛素血症","synonyms":["谷氨酸脱氢酶缺乏所致高胰岛素血症"]},"tr":{"name":"Kısa zincirli 3-hidroksilaçil-KoA dehidrojenaz eksikliğine bağlı hiperinsülinizm","synonyms":["Kısa zincirli 3-hidroksilasil-CoA dehidrojenaz eksikliğine bağlı hiperinsülinemik hipoglisemi","SCHAD eksikliği","SCHAD eksikliğine bağlı hiperinsülinizm","Glutamodehidrojenaz eksikliğine bağlı hiperinsülinizm"]}},"xrefs":[{"source":"OMIM","code":"231530","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609975","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1856599173"},{"source":"UMLS","code":"C4303473","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9870","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":35123,"name":"OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency","status":"inactive"}],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309127,"name":"3-hydroxyacyl-CoA dehydrogenase deficiency","classifications":[150,156]},{"orpha":165985,"name":"Diazoxide-sensitive diffuse hyperinsulinism","classifications":[150,156,193]},{"orpha":225696,"name":"Energy metabolism disorder with epilepsy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HADH","name":"hydroxyacyl-CoA dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4799","ensembl":"ENSG00000138796","omim":"601609","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-13","source":"21967988[PMID]_904979[PMID]_904979[PMID]_1835339[PMID]_8736409[PMID]_10347277[PMID]_10931422[PMID]_11489939[PMID]_12400064[PMID]_14693719[PMID]_16176262[PMID]_23430856[PMID]_25141826[PMID]","terms":[{"hpo":"HP:0100950","label":"Decreased 3-hydroxyacyl-CoA dehydrogenase level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0012071","label":"Abnormality of acetylcarnitine metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003215","label":"Dicarboxylic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008283","label":"Fasting hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006929","label":"Hypoglycemic encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002173","label":"Hypoglycemic seizures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030796","label":"Increased C-peptide level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030781","label":"Increased circulating free fatty acid level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003508","label":"Proportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003234","label":"Decreased circulating carnitine concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002605","label":"Hepatic necrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Very rare (<4-1%)","criteria":null}]}}