{"Name":"Ketoacidosis due to monocarboxylate transporter-1 deficiency","DiseaseID__c":"GARD:0017733","id":17733,"encodedName":"ketoacidosis-due-to-monocarboxylate-transporter-1-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Ketoacidosis due to monocarboxylate transporter-1 deficiency","Xref_IDs__c":"1216941002; C4015186; MEDGEN:863623; MONDO:0014490; OMIM:616095; ORPHA:438075","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:438075","Disease_Description__c":"A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.","GARD_Name__c":"Ketoacidosis due to monocarboxylate transporter-1 deficiency","GARD_Synonym__c":"monocarboxylate transporter 1 deficiency","Curated_Disease_Description_Source__c":"ORPHA:438075","Curated_Disease_Description__c":"A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:438075","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014490","ORPHANET_ID__c":"ORPHA:438075","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cetoacidosis por deficiencia del transportador de monocarboxilato 1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"cetoacidosis por deficiencia del transportador de monocarboxilato 1","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":"A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.","Curated_Disease_Description_Source__c":"ORPHA:438075","GARD_Synonym__c":"monocarboxylate transporter 1 deficiency","Name":"Ketoacidosis due to monocarboxylate transporter-1 deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:438075"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:438075"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/438075","Source__c":"C4015186; MONDO:0014490; ORPHA:438075","Xref__c":"ORPHA:438075"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015186","Source__c":"C4015186","Xref__c":"C4015186"},{"URL__c":"https://www.omim.org/entry/616095","Source__c":"C4015186; MONDO:0014490; ORPHA:438075","Xref__c":"OMIM:616095"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863623","Source__c":"C4015186","Xref__c":"MEDGEN:863623"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014490","Source__c":"GARD:0017733","Xref__c":"MONDO:0014490"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1216941002","Source__c":"C4015186","Xref__c":"1216941002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC16A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616095","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616095","Feature__r":{"HPO_Description__c":"Low blood glucose is accompanied by elevated levels of ketone bodies in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012734","HPO_Synonym__c":"Ketotic low blood sugar","HPO_Name__c":"Ketotic hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616095","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616095","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Acidosis resulting from accumulation of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001993","HPO_Name__c":"Ketoacidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616095","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002919","HPO_Synonym__c":"Ketonaciduria; Ketone bodies in urine","HPO_Name__c":"Ketonuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616095","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["monocarboxylate transporter 1 deficiency"]}