{"Name":"Galactosemia","DiseaseID__c":"GARD:0002424","id":2424,"encodedName":"galactosemia","IsDeleted":false,"Disease_Name_Full__c":"Galactosemia","Xref_IDs__c":"190745006; C0016952; C84723; D005693; DOID:9870; E74.21; MEDGEN:8943; MONDO:0018116; OMIMPS:230400; ORPHA:352","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0018116","Disease_Description__c":"Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms).","GARD_Name__c":"Galactosemia","GARD_Synonym__c":"galactosaemia; galactose intolerance","Curated_Disease_Description_Source__c":"GARD:0002424","Curated_Disease_Description__c":"Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy. Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose. Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency). Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:352","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018116","ORPHANET_ID__c":"ORPHA:352","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Galactosemia","Spanish_Description_Source__c":"ORPHA:352","Spanish_Description__c":"La galactosemia constituye un grupo de raros trastornos genéticos del metabolismo de la galactosa que inducen una serie de manifestaciones clínicas variables, incluyendo una forma muy grave de la enfermedad (galactosemia clásica), una forma leve menos frecuente que la anterior (déficit de galactoquinasa) que provoca únicamente cataratas, y una forma todavía mas rara (déficit de galactosa epimerasa) de gravedad variable que, en su forma grave, se asemeja a la galactosemia clásica.","Spanish_Disease_Name__c":"galactosemia","Spanish_GARD_Synonym__c":null,"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":"Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy. Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose. Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency). Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.","Curated_Disease_Description_Source__c":"GARD:0002424","GARD_Synonym__c":"galactosaemia; galactose intolerance","Name":"Galactosemia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Galactosemia Support Group","Website__c":"https://www.galactosaemia.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Española para la Galactosemia"},{"Account_Name__c":"Amigos Metabólicos","Website__c":"http://www.amigosmetabolicos.org/"},{"Account_Name__c":"Asociación Española para el Estudio de los Errores Congénitos del Metabolismo","Website__c":"www.aecom.com.es"},{"Account_Name__c":"Federación Española de Enfermedades Metabólicas Hereditarias","Website__c":"https://metabolicos.es/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Galactosemia Foundation","Website__c":"https://www.galactosemia.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:352"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:352"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/GALT"},{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/GALE"},{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/GALK"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0016952"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/352","Source__c":"C0016952; MONDO:0018116; ORPHA:352","Xref__c":"ORPHA:352"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0016952","Source__c":"C0016952","Xref__c":"C0016952"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84723","Source__c":"C0016952; MONDO:0018116","Xref__c":"C84723"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9870","Source__c":"MONDO:0018116","Xref__c":"DOID:9870"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005693","Source__c":"C0016952; MONDO:0018116","Xref__c":"D005693"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=190745006","Source__c":"C0016952; MONDO:0018116","Xref__c":"190745006"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS230400","Source__c":"MONDO:0018116","Xref__c":"OMIMPS:230400"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8943","Source__c":"C0016952","Xref__c":"MEDGEN:8943"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E74.21","Source__c":"MONDO:0018116","Xref__c":"E74.21"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004919","Source__c":"C0016952","Xref__c":"HP:0004919"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018116","Source__c":"GARD:0002424","Xref__c":"MONDO:0018116"},{"URL__c":"https://medlineplus.gov/genetics/condition/galactosemia","Source__c":"GARD:0002424","Xref__c":"https://medlineplus.gov/genetics/condition/galactosemia"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Nephrology","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology"]},"synonyms":["galactosaemia"," galactose intolerance"],"spanishId":12418,"spanishName":"galactosemia"}