{"Name":"Deficiency of beta-ureidopropionase","DiseaseID__c":"GARD:0016669","id":16669,"encodedName":"deficiency-of-beta-ureidopropionase","IsDeleted":false,"Disease_Name_Full__c":"Deficiency of beta-ureidopropionase","Xref_IDs__c":"124511000; C1291512; C563210; MEDGEN:226944; MONDO:0013164; OMIM:613161; ORPHA:65287","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013164","Disease_Description__c":"Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).","GARD_Name__c":"Deficiency of beta-ureidopropionase","GARD_Synonym__c":"beta-alanine synthase deficiency; beta-ureidopropionase deficiency; upb1d","Curated_Disease_Description_Source__c":"ORPHA:65287","Curated_Disease_Description__c":"Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals. People with beta-ureidopropionase deficiency can have low muscle tone (hypotonia), seizures, speech difficulties, developmental delay, intellectual disability, and autistic behaviors that affect communication and social interaction. Some people with this condition have an abnormally small head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to the brain, can lead to vision loss in this condition. In some people with beta-ureidopropionase deficiency, the disease causes no neurological problems and can only be diagnosed by laboratory testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:65287","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013164","ORPHANET_ID__c":"ORPHA:65287","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de beta-ureidopropionasa","Spanish_Description_Source__c":"ORPHA:65287","Spanish_Description__c":"El déficit de beta-ureidopropionasa es un trastorno muy raro del metabolismo de la pirimidina descrito en menos de 10 pacientes hasta la fecha, con un cuadro clínico extremadamente amplio que varía desde casos asintomáticos hasta trastornos neurológicos (epilepsia, autismo) y del desarrollo (urogenital, colorrectal).","Spanish_Disease_Name__c":"deficiencia de beta-ureidopropionasa","Spanish_GARD_Synonym__c":"deficiencia de beta-alanina sintasa; deficiencia de beta-alanina sintetasa","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":"Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals. People with beta-ureidopropionase deficiency can have low muscle tone (hypotonia), seizures, speech difficulties, developmental delay, intellectual disability, and autistic behaviors that affect communication and social interaction. Some people with this condition have an abnormally small head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to the brain, can lead to vision loss in this condition. In some people with beta-ureidopropionase deficiency, the disease causes no neurological problems and can only be diagnosed by laboratory testing.","Curated_Disease_Description_Source__c":"ORPHA:65287","GARD_Synonym__c":"beta-alanine synthase deficiency; beta-ureidopropionase deficiency; upb1d","Name":"Deficiency of beta-ureidopropionase","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:65287"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:65287"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/65287","Source__c":"C1291512; MONDO:0013164; ORPHA:65287","Xref__c":"ORPHA:65287"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1291512","Source__c":"C1291512","Xref__c":"C1291512"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124511000","Source__c":"C1291512; MONDO:0013164","Xref__c":"124511000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563210","Source__c":"MONDO:0013164","Xref__c":"C563210"},{"URL__c":"https://www.omim.org/entry/613161","Source__c":"C1291512; MONDO:0013164; ORPHA:65287","Xref__c":"OMIM:613161"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=226944","Source__c":"C1291512","Xref__c":"MEDGEN:226944"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013164","Source__c":"GARD:0016669","Xref__c":"MONDO:0013164"},{"URL__c":"https://medlineplus.gov/genetics/condition/beta-ureidopropionase-deficiency","Source__c":"GARD:0016669","Xref__c":"https://medlineplus.gov/genetics/condition/beta-ureidopropionase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UPB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/upb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:65287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Activity of beta-ureidopropionase in the liver below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000082","HPO_Synonym__c":"Liver biopsy: beta-ureidopropionase activity low","HPO_Name__c":"Reduced hepatic beta-ureidopropionase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:65287","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"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000623","HPO_Name__c":"Elevated urinary N-carbamyl-beta-aminoisobutyric acid level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the cerebral cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002539","HPO_Synonym__c":"Neocortical dysplasia","HPO_Name__c":"Cortical dysplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The amount of dihydrouracil in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000118","HPO_Synonym__c":"Dihydrouracil high in urine","HPO_Name__c":"Elevated urinary dihydrouracil level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000279","HPO_Name__c":"Elevated urinary N-carbamoyl-beta-alanine level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed myelination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012448","HPO_Name__c":"Delayed myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000717","HPO_Synonym__c":"Autism","HPO_Name__c":"Autism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:65287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The amount of dihydrothymine in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000119","HPO_Synonym__c":"Dihydrothymine in urine high","HPO_Name__c":"Elevated urinary dihydrothymine level","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["beta-alanine synthase deficiency"," beta-ureidopropionase deficiency"," upb1d"]}