{"Name":"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","DiseaseID__c":"GARD:0013201","id":13201,"encodedName":"hyperammonemic-encephalopathy-due-to-carbonic-anhydrase-va-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","Xref_IDs__c":"764456001; C4706871; MEDGEN:1644778; MONDO:0014332; OMIM:615751; ORPHA:401948","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":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":3,"Description_Source__c":"ORPHA:401948","Disease_Description__c":"A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.","GARD_Name__c":"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","GARD_Synonym__c":"ca-va (carbonic anhydrase va) deficiency; ca-va deficiency; ca5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency; carbonic anhydrase 5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency; carbonic anhydrase va deficiency; carbonic anhydrase va deficiency, hyperammonemia due to","Curated_Disease_Description_Source__c":"MEDGEN:C3810404","Curated_Disease_Description__c":"Carbonic anhydrase VA deficiency is an inherited disorder characterized by episodes during which the balance of certain substances in the body is disrupted (known as metabolic crisis) and brain function is abnormal (known as acute encephalopathy). These potentially life-threatening episodes can cause poor feeding, vomiting, weight loss, tiredness (lethargy), rapid breathing (tachypnea), seizures, or coma. During an episode, people with carbonic anhydrase VA deficiency have excess ammonia in the blood (hyperammonemia), problems with acid-base balance in the blood (metabolic acidosis and respiratory alkalosis), low glucose in the blood (hypoglycemia), and reduced production of a substance called bicarbonate in the liver. These imbalances lead to the signs and symptoms that occur during the episodes. People with carbonic anhydrase VA deficiency typically first experience episodes of the disorder by age 2. These episodes may be triggered by going without food (fasting) for longer than usual between meals or when energy demands are increased, such as during illness. Between episodes, children with carbonic anhydrase VA deficiency are generally healthy, and more than half have no further episodes after the first one. Some affected children have mildly delayed development or learning disabilities, while others develop normally for their age. The risk of metabolic crisis and acute encephalopathy is thought to decrease after childhood. Because of the small number of people with carbonic anhydrase VA deficiency who have come to medical attention, the effects of this disorder in adults are not well understood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:401948","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014332","ORPHANET_ID__c":"ORPHA:401948","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía hiperamonémica por deficiencia de anhidrasa carbónica va","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"encefalopatía hiperamonémica por deficiencia de anhidrasa carbónica va","Spanish_GARD_Synonym__c":"deficiencia de ac-va","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":"Carbonic anhydrase VA deficiency is an inherited disorder characterized by episodes during which the balance of certain substances in the body is disrupted (known as metabolic crisis) and brain function is abnormal (known as acute encephalopathy). These potentially life-threatening episodes can cause poor feeding, vomiting, weight loss, tiredness (lethargy), rapid breathing (tachypnea), seizures, or coma. During an episode, people with carbonic anhydrase VA deficiency have excess ammonia in the blood (hyperammonemia), problems with acid-base balance in the blood (metabolic acidosis and respiratory alkalosis), low glucose in the blood (hypoglycemia), and reduced production of a substance called bicarbonate in the liver. These imbalances lead to the signs and symptoms that occur during the episodes. People with carbonic anhydrase VA deficiency typically first experience episodes of the disorder by age 2. These episodes may be triggered by going without food (fasting) for longer than usual between meals or when energy demands are increased, such as during illness. Between episodes, children with carbonic anhydrase VA deficiency are generally healthy, and more than half have no further episodes after the first one. Some affected children have mildly delayed development or learning disabilities, while others develop normally for their age. The risk of metabolic crisis and acute encephalopathy is thought to decrease after childhood. Because of the small number of people with carbonic anhydrase VA deficiency who have come to medical attention, the effects of this disorder in adults are not well understood.","Curated_Disease_Description_Source__c":"MEDGEN:C3810404","GARD_Synonym__c":"ca-va (carbonic anhydrase va) deficiency; ca-va deficiency; ca5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency; carbonic anhydrase 5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency; carbonic anhydrase va deficiency; carbonic anhydrase va deficiency, hyperammonemia due to","Name":"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.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":"Infancy","Provided_By__c":"ORPHA:401948"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:401948"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:401948"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3810404"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013201","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK284774","Source__c":"Gene Review","Xref__c":"NBK284774"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764456001","Source__c":"C4706871; MONDO:0014332","Xref__c":"764456001"},{"URL__c":"https://www.orpha.net/en/disease/detail/401948","Source__c":"C4706871; MONDO:0014332; ORPHA:401948","Xref__c":"ORPHA:401948"},{"URL__c":"https://www.omim.org/entry/615751","Source__c":"C4706871; MONDO:0014332; ORPHA:401948","Xref__c":"OMIM:615751"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014332","Source__c":"GARD:0013201","Xref__c":"MONDO:0014332"},{"URL__c":"https://medlineplus.gov/genetics/condition/carbonic-anhydrase-va-deficiency","Source__c":"GARD:0013201","Xref__c":"https://medlineplus.gov/genetics/condition/carbonic-anhydrase-va-deficiency"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706871","Source__c":"C4706871","Xref__c":"C4706871"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1644778","Source__c":"C4706871","Xref__c":"MEDGEN:1644778"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CA5A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ca5a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of glutamine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003217","HPO_Synonym__c":"High plasma glutamine","HPO_Name__c":"Hyperglutaminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of lactic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003648","HPO_Synonym__c":"High urine lactic acid levels; Increased urine lactate","HPO_Name__c":"Lacticaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of 3-hydroxybutyric acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040155","HPO_Name__c":"Elevated urinary 3-hydroxybutyric acid","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of proline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008358","HPO_Synonym__c":"Prolinemia","HPO_Name__c":"Hyperprolinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of suberic 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:0033213","HPO_Synonym__c":"Elevated urine octanedioic acid level","HPO_Name__c":"Elevated urine suberic acid level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of alanine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003348","HPO_Synonym__c":"Increased blood alanine; Increased serum alanine","HPO_Name__c":"Hyperalaninemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003228","HPO_Synonym__c":"High blood sodium levels","HPO_Name__c":"Hypernatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","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":"OMIM:615751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paroxysmal, recurrent episodes of vomiting.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002572","HPO_Synonym__c":"Episodic vomiting","HPO_Name__c":"Episodic vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Occasional (5-29%)","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:615751","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:615751","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":"OMIM:615751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of citrulline in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003572","HPO_Name__c":"Low plasma citrulline","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal decrease in ornithine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500163","HPO_Synonym__c":"Decreased blood ornithine concentrations; Low blood ornithine levels","HPO_Name__c":"Hypoornithinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033111","HPO_Synonym__c":"Increased urine 3-hydroxyisovaleric acid level","HPO_Name__c":"3-hydroxyisovaleric aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","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:615751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal concentration of sebacic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500251","HPO_Synonym__c":"Abnormal urine decanedioic acid concentration","HPO_Name__c":"Abnormal urine sebacic acid concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevated amount of acetoacetic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033407","HPO_Name__c":"Elevated urine acetoacetic acid level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Alkalosis due to excess loss of carbon dioxide from the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001950","HPO_Name__c":"Respiratory alkalosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615751","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:615751","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["ca-va (carbonic anhydrase va) deficiency"," ca-va deficiency"," ca5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency"," carbonic anhydrase 5a related hyperammonemic encephalopathy due to carbonic anhydrase va deficiency"," carbonic anhydrase va deficiency"," carbonic anhydrase va deficiency, hyperammonemia due to"]}