{"orpha":570422,"name":"Galactose mutarotase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Galactosemia type IV","Type 4 galactosemia","Type IV galactosemia","GALM deficiency","GALM deficiency galactosemia","Galactose mutarotase deficiency galactosemia","Galactosemia type 4"],"definition":"A rare genetic disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, mild liver dysfunction/elevated AST, ALT/hepatomegaly and jaundice in the neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-570422/","orphanet_url":"https://www.orpha.net/en/disease/detail/570422","names":{"fr":{"name":"Déficit en galactose mutarotase","synonyms":["Déficit en GALM","Galactosémie de type 4","Galactosémie de type IV","Galactosémie par déficit en GALM","Galactosémie par déficit en galactose mutarotase"],"definition":"Trouble rare du métabolisme du galactose caractérisé par une galactosémie congénitale persistante due à un déficit de l'enzyme galactose mutarotase. Les patients peuvent présenter une cataracte bilatérale, en l'absence de symptômes gastro-intestinaux ou de dysfonctionnements hépatiques sévères. L'histoire naturelle de la maladie n'est pas connue, mais des complications sévères (symptômes neurologiques) ont été rapportées chez des patients rapidement traités par un régime pauvre en galactose."},"de":{"name":"Galaktose-Mutarotase-Mangel","synonyms":["GALM-Mangel","Galaktosämie Typ IV","GALM-Defizienz","Galaktosämie Typ 4"],"definition":"Eine seltene Störung des Galaktosestoffwechsels, die durch eine persistierende kongenitale Galaktosämie aufgrund eines Mangels des Enzyms Galaktose-Mutarotase gekennzeichnet ist. Die Patienten können eine beidseitige Katarakt aufweisen, während gastrointestinale Symptome oder eine schwere Leberfunktionsstörung fehlen. Der natürliche Verlauf der Krankheit ist unbekannt. Schwerwiegende Komplikationen, wie z. B. neurologische Symptome, wurden bei frühzeitiger Behandlung mit einer galaktosebeschränkten Diät nicht berichtet."},"es":{"name":"Deficiencia de galactosa mutarotasa","synonyms":["Galactosemia por deficiencia de galactosa mutarotasa","Galactosemia tipo IV","Galactosemia por deficiencia de GALM","Deficiencia de GALM","Galactosemia tipo 4"],"definition":"Es un trastorno poco frecuente del metabolismo de la galactosa caracterizado por galactosemia congénita persistente debido a la deficiencia de la enzima galactosa mutarotasa. Los pacientes pueden presentar catarata bilateral, en ausencia de síntomas digestivos o de disfunción hepática grave. La historia natural de la enfermedad es desconocida. No se ha descrito complicaciones graves, tales como síntomas neurológicos, cuando se instaura un tratamiento temprano basado en una dieta restringida en galactosa."},"it":{"name":"Deficit di galattosio mutarotasi","synonyms":["Galattosemia tipo IV","Galattosemia da deficit di GALM","Galattosemia da deficit di galattosio mutarotasi","Defici di GALM","Galattosemia tipo 4"],"definition":"Si tratta di una malattia rara del metabolismo del galattosio, caratterizzata da galattosemia congenita persistente secondaria al deficit dell'enzima galattosio mutarotasi. I pazienti possono presentare cataratta bilaterale, in assenza di sintomi gastrointestinali o disfunzione epatica grave. La storia naturale della malattia non è nota. Se trattata precocemente con una dieta a basso contenuto di galattosio, la malattia non si associa a complicanze gravi, come i sintomi neurologici."},"nl":{"name":"Deficiëntie van galactosemutarotase","synonyms":["Type IV galactosemie","Type 4 galactosemie","GALM-deficiëntie","Galactosemie door GALM-deficiëntie","Galactosemie door deficiëntie van galactosemutarotase","Galactosemie type IV","Galactosemie type 4"],"definition":"Een zeldzame stoornis van galactosemetabolisme, gekarakteriseerd door persisterende congenitale galactosemie door deficiëntie van het enzym galactose-mutarotase. Patiënten vertonen mogelijk bilateraal cataract, terwijl gastro-intestinale symptomen of ernstige leverdisfunctie afwezig zijn. Het natuurlijke ziekteverloop is niet gekend. Ernstige complicaties, zoals neurologische symptomen, werden nog niet gerapporteerd bij vroege behandeling met een galactosearm dieet."},"pt":{"name":"Deficiência de galactose mutarotase"},"pl":{"name":"Niedobór mutarotazy galaktozowej","synonyms":["Galaktozemia typu 4"]},"cs":{"name":"Deficit galaktóza-mutarotázy","synonyms":["Galactosemia type IV","Type 4 galactosemia","Type IV galactosemia","GALM deficiency","GALM deficiency galactosemia","Galactose mutarotase deficiency galactosemia","Galactosemia type 4"]},"uk":{"name":"Дефіцит галактозо-мутаротази","synonyms":["Галактоземія типу 4","Дефіцит GALM"],"definition":"A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet."},"zh":{"name":"半乳糖变旋酶缺乏症","synonyms":["半乳糖血症4型"]},"tr":{"name":"Galaktoz mutarotaz eksikliği","synonyms":["GALM eksikliği","Galaktozemi tip 4"]}},"xrefs":[{"source":"OMIM","code":"618881","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"30105","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394377","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":352,"name":"Galactosemia","classifications":[150,156,188,189]}],"children":[],"genes":[{"symbol":"GALM","name":"galactose mutarotase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30451973[PMID]","hgnc":"24063","ensembl":"ENSG00000143891","omim":"137030","loci":["2p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Worldwide","status":"Validated","source":"30451973[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Japan","status":"Validated","source":"30451973[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-30","source":"33181226[PMID]_33181226[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012024","label":"Hypergalactosemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004915","label":"Impairment of galactose metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null}]}}