{"Name":"Argininosuccinate lyase deficiency","DiseaseID__c":"GARD:0005843","id":5843,"encodedName":"argininosuccinate-lyase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Argininosuccinate lyase deficiency","Xref_IDs__c":"41013004; C0268547; C84569; D056807; DOID:14755; MEDGEN:78687; MONDO:0008815; NBK51784; OMIM:207900; ORPHA:23","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008815","Disease_Description__c":"A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction.","GARD_Name__c":"Argininosuccinate lyase deficiency","GARD_Synonym__c":"argininosuccinase deficiency; argininosuccinatelyase deficiency; argininosuccinic acid lyase deficiency; argininosuccinic acidemia; argininosuccinic aciduria; arginosuccinase deficiency; asa deficiency; asal deficiency; asl deficiency; asl-gene related argininosuccinate lyase deficiency; deficiency of argininosuccinate lyase","Curated_Disease_Description_Source__c":"GARD:0005843","Curated_Disease_Description__c":"Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, high blood pressure (hypertension), skin lesions, and brittle hair may also be seen. Occasionally, individuals may inherit a mild form of the disorder. These individuals can have an accumulation of ammonia in the bloodstream only during periods of illness or other stress, or mild intellectual disability or learning disabilities with no evidence of elevated ammonia levels.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:23","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008815","ORPHANET_ID__c":"ORPHA:23","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria argininosuccínica","Spanish_Description_Source__c":"ORPHA:23","Spanish_Description__c":"Es un trastorno del metabolismo del ciclo de la urea, de origen genético y poco frecuente, caracterizado típicamente por una forma grave de inicio neonatal que se manifiesta en los primeros días de vida como hiperamonemia acompañada de vómitos, hipotermia, letargia y problemas de la alimentación, o por formas de inicio tardío que se manifiestan como hiperamonemia episódica inducida por infecciones o estrés o, en algunos casos, como alteraciones de la conducta y/o dificultades de aprendizaje, o como enfermedad hepática crónica. A menudo, los pacientes manifiestan disfunción hepática.","Spanish_Disease_Name__c":"aciduria argininosuccínica","Spanish_GARD_Synonym__c":"deficiencia asa; deficiencia asl; deficiencia de argininosuccinato liasa; deficiencia de arginosuccinasa; deficiencia de ácido argininosuccínico liasa","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":"Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, high blood pressure (hypertension), skin lesions, and brittle hair may also be seen. Occasionally, individuals may inherit a mild form of the disorder. These individuals can have an accumulation of ammonia in the bloodstream only during periods of illness or other stress, or mild intellectual disability or learning disabilities with no evidence of elevated ammonia levels.","Curated_Disease_Description_Source__c":"GARD:0005843","GARD_Synonym__c":"argininosuccinase deficiency; argininosuccinatelyase deficiency; argininosuccinic acid lyase deficiency; argininosuccinic acidemia; argininosuccinic aciduria; arginosuccinase deficiency; asa deficiency; asal deficiency; asl deficiency; asl-gene related argininosuccinate lyase deficiency; deficiency of argininosuccinate lyase","Name":"Argininosuccinate lyase deficiency","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"National Urea Cycle Disorders Foundation","Website__c":"https://nucdf.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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:23"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/ASA"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268547"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005843","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK51784","Source__c":"Gene Review","Xref__c":"NBK51784"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1217","Xref__c":"NBK1217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C056807","Source__c":"C0268547; MONDO:0008815","Xref__c":"D056807"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=41013004","Source__c":"C0268547; MONDO:0008815","Xref__c":"41013004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84569","Source__c":"C0268547; MONDO:0008815","Xref__c":"C84569"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78687","Source__c":"C0268547","Xref__c":"MEDGEN:78687"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14755","Source__c":"MONDO:0008815","Xref__c":"DOID:14755"},{"URL__c":"https://www.orpha.net/en/disease/detail/23","Source__c":"C0268547; MONDO:0008815; ORPHA:23","Xref__c":"ORPHA:23"},{"URL__c":"https://www.omim.org/entry/207900","Source__c":"C0268547; MONDO:0008815; ORPHA:23","Xref__c":"OMIM:207900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268547","Source__c":"C0268547","Xref__c":"C0268547"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008815","Source__c":"GARD:0005843","Xref__c":"MONDO:0008815"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0025630","Source__c":"C0268547","Xref__c":"HP:0025630"},{"URL__c":"https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria","Source__c":"GARD:0005843","Xref__c":"https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ASL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/asl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; 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The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic form of pancreatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006280","HPO_Synonym__c":"Chronic pancreas inflammation","HPO_Name__c":"Chronic pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007183","HPO_Name__c":"Focal T2 hyperintense basal ganglia lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of arginine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005961","HPO_Synonym__c":"Low blood arginine levels","HPO_Name__c":"Hypoargininemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased amount of argininosuccinate in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025630","HPO_Name__c":"Argininosuccinic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002789","HPO_Synonym__c":"Increased respiratory rate or depth of breathing; Polypnea","HPO_Name__c":"Tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009886","HPO_Name__c":"Trichorrhexis nodosa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032470","HPO_Name__c":"Monilethrix","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Frequent (30-79%)","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:23","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:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:23","HPO_Frequency__c":"Frequent (30-79%)","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:23","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased concentration of orotic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003218","HPO_Synonym__c":"High urine orotic acid levels; Increased urinary orotic acid concentration","HPO_Name__c":"Oroticaciduria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["argininosuccinase deficiency"," argininosuccinatelyase deficiency"," argininosuccinic acid lyase deficiency"," argininosuccinic acidemia"," argininosuccinic aciduria"," arginosuccinase deficiency"," asa deficiency"," asal deficiency"," asl deficiency"," asl-gene related argininosuccinate lyase deficiency"," deficiency of argininosuccinate lyase"]}