{"Name":"Saccharopinuria","DiseaseID__c":"GARD:0000314","id":314,"encodedName":"saccharopinuria","IsDeleted":false,"Disease_Name_Full__c":"Saccharopinuria","Xref_IDs__c":"111397004; C0268556; C537218; MEDGEN:75693; MONDO:0010005; OMIM:268700; ORPHA:3124","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010005","Disease_Description__c":"A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms.","GARD_Name__c":"Saccharopinuria","GARD_Synonym__c":"hyperlysinemia type ii; hyperlysinemia, type ii; saccharopine dehydrogenase deficiency","Curated_Disease_Description_Source__c":"MONDO:0010005","Curated_Disease_Description__c":"A rare autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3124","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010005","ORPHANET_ID__c":"ORPHA:3124","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sacaropinuria","Spanish_Description_Source__c":"ORPHA:3124","Spanish_Description__c":"Es un trastorno poco frecuente del catabolismo de la lisina, autosómico recesivo, caracterizado por niveles elevados de lisina en el líquido cefalorraquídeo y en la sangre con grados variables de sacaropinuria. Algunos pacientes presentan síntomas neurológicos como crisis epilépticas, diplejía espástica, retraso psicomotor leve, déficit intelectual y trastornos de conducta. Sin embargo, los hallazgos actuales no sugieren una asociación causal entre la hiperlisinemia aislada y las manifestaciones neurológicas.","Spanish_Disease_Name__c":"sacaropinuria","Spanish_GARD_Synonym__c":"deficiencia de sacaropina deshidrogenasa; hiperlisinemia tipo 2","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 autosomal recessive disorder of the lysine catabolism characterized by elevated levels of lysine in the cerebrospinal fluid and blood with variable degrees of saccharopinuria. Some patients present with neurological symptoms such as seizures, spastic diplegia, mild psychomotor delay, intellectual deficit, and behavioral difficulties. However, current findings suggest no causal association between isolated hyperlysinemia and neurological symptoms.","Curated_Disease_Description_Source__c":"MONDO:0010005","GARD_Synonym__c":"hyperlysinemia type ii; hyperlysinemia, type ii; saccharopine dehydrogenase deficiency","Name":"Saccharopinuria","estimateUsa":""}],"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":"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":"Neonatal","Provided_By__c":"ORPHA:3124"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3124"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268556"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000314","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/3124","Source__c":"C0268556; MONDO:0010005; ORPHA:3124","Xref__c":"ORPHA:3124"},{"URL__c":"https://www.omim.org/entry/268700","Source__c":"C0268556; MONDO:0010005; ORPHA:3124","Xref__c":"OMIM:268700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75693","Source__c":"C0268556","Xref__c":"MEDGEN:75693"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268556","Source__c":"C0268556","Xref__c":"C0268556"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111397004","Source__c":"C0268556; MONDO:0010005","Xref__c":"111397004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537218","Source__c":"MONDO:0010005","Xref__c":"C537218"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010005","Source__c":"GARD:0000314","Xref__c":"MONDO:0010005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AASS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aass","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of lysine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003297","HPO_Synonym__c":"High urine lysine levels; Lysinuria","HPO_Name__c":"Hyperlysinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","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:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001264","HPO_Synonym__c":"Spastic diparesis; Spastic diplegic","HPO_Name__c":"Spastic diplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of cystine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003131","HPO_Synonym__c":"High urine cystine levels","HPO_Name__c":"Cystinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The amount of citrulline in the urine, when normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032397","HPO_Synonym__c":"Citrulline high in urine","HPO_Name__c":"Citrullinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001507","HPO_Synonym__c":"Abnormal growth; Growth abnormality; Growth issue","HPO_Name__c":"Growth abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased amount of cystine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500151","HPO_Synonym__c":"High blood cystine levels; Increased blood cystine concentration","HPO_Name__c":"Hypercystinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of an enzyme in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011021","HPO_Synonym__c":"Abnormality of circulating enzyme level","HPO_Name__c":"Abnormal circulating enzyme concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of lysine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002161","HPO_Synonym__c":"Elevated blood lysine","HPO_Name__c":"Hyperlysinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of citrulline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011966","HPO_Name__c":"Elevated plasma citrulline","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:3124","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of ammonia in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001987","HPO_Synonym__c":"High blood ammonia levels","HPO_Name__c":"Hyperammonemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["hyperlysinemia type ii"," hyperlysinemia, type ii"," saccharopine dehydrogenase deficiency"]}