{"Name":"Glycine encephalopathy","DiseaseID__c":"GARD:0007219","id":7219,"encodedName":"glycine-encephalopathy","IsDeleted":false,"Disease_Name_Full__c":"Glycine encephalopathy","Xref_IDs__c":"237939006; 423022973; C0751748; C84937; DOID:9268; MEDGEN:155625; MONDO:0011612; OMIMPS:605899; ORPHA:407","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011612","Disease_Description__c":"Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.","GARD_Name__c":"Glycine encephalopathy","GARD_Synonym__c":"amt-related glycine encephalopathy; disorder of glycine cleavage enzyme complex; gldc-related glycine encephalopathy; nka; nkh - non-ketotic hyperglycinemia; non ketotic hyperglycinemia; non-ketotic hyperglycinemia; nonketotic hyperglycinemia","Curated_Disease_Description_Source__c":"GARD:0007219","Curated_Disease_Description__c":"Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the brain. Affected individuals have serious neurological problems. Nonketotic hyperglycinemia has two forms, the severe form and the attenuated form. Both forms usually begin shortly after birth, although in some cases, signs and symptoms can begin in the first few months of life. Only the attenuated form begins later in infancy. The forms are distinguished by the seriousness of the signs and symptoms. Severe nonketotic hyperglycinemia is more common. Affected babies experience extreme sleepiness (lethargy) that worsens over time and can lead to coma. They can also have weak muscle tone (hypotonia) and life-threatening breathing problems in the first days or weeks of life. Most children who survive these early signs and symptoms develop feeding difficulties, abnormal muscle stiffness (spasticity), profound intellectual disability and seizures that are difficult to control. Most affected children do not achieve normal developmental milestones, such as drinking from a bottle, sitting up, or grabbing objects, and they may lose any acquired skills over time. The signs and symptoms of the attenuated form of nonketotic hyperglycinemia are similar to, but milder than, those of the severe form of the condition. Children with attenuated nonketotic hyperglycinemia typically reach developmental milestones, although the skills they achieve vary widely. Despite delayed development, many affected children eventually learn to walk and are able to interact with others, often using sign language. Some affected children develop seizures; if present, seizures are usually mild and can be treated. Other features can include spasticity, involuntary jerking movements (chorea), or hyperactivity. Individuals with nonketotic hyperglycinemia can also have certain changes in the brain, which can be seen using magnetic resonance imaging (MRI). For example, in children with the severe form of the condition, the tissue that connects the left and right halves of the brain (the corpus callosum) is smaller than average.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:407","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011612","ORPHANET_ID__c":"ORPHA:407","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía por glicina","Spanish_Description_Source__c":"ORPHA:407","Spanish_Description__c":"La encefalopatía por glicina (GE) es un error congénito del metabolismo de la glicina caracterizado por la acumulación de glicina en los fluidos y tejidos del cuerpo, incluyendo el cerebro, provocando síntomas neurometabólicos de gravedad variable.","Spanish_Disease_Name__c":"encefalopatía por glicina","Spanish_GARD_Synonym__c":"hiperglicinemia no cetósica; nka","Category_Linearization__c":"ORPHA:98006","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":"Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the brain. Affected individuals have serious neurological problems. Nonketotic hyperglycinemia has two forms, the severe form and the attenuated form. Both forms usually begin shortly after birth, although in some cases, signs and symptoms can begin in the first few months of life. Only the attenuated form begins later in infancy. The forms are distinguished by the seriousness of the signs and symptoms. Severe nonketotic hyperglycinemia is more common. Affected babies experience extreme sleepiness (lethargy) that worsens over time and can lead to coma. They can also have weak muscle tone (hypotonia) and life-threatening breathing problems in the first days or weeks of life. Most children who survive these early signs and symptoms develop feeding difficulties, abnormal muscle stiffness (spasticity), profound intellectual disability and seizures that are difficult to control. Most affected children do not achieve normal developmental milestones, such as drinking from a bottle, sitting up, or grabbing objects, and they may lose any acquired skills over time. The signs and symptoms of the attenuated form of nonketotic hyperglycinemia are similar to, but milder than, those of the severe form of the condition. Children with attenuated nonketotic hyperglycinemia typically reach developmental milestones, although the skills they achieve vary widely. Despite delayed development, many affected children eventually learn to walk and are able to interact with others, often using sign language. Some affected children develop seizures; if present, seizures are usually mild and can be treated. Other features can include spasticity, involuntary jerking movements (chorea), or hyperactivity. Individuals with nonketotic hyperglycinemia can also have certain changes in the brain, which can be seen using magnetic resonance imaging (MRI). For example, in children with the severe form of the condition, the tissue that connects the left and right halves of the brain (the corpus callosum) is smaller than average.","Curated_Disease_Description_Source__c":"GARD:0007219","GARD_Synonym__c":"amt-related glycine encephalopathy; disorder of glycine cleavage enzyme complex; gldc-related glycine encephalopathy; nka; nkh - non-ketotic hyperglycinemia; non ketotic hyperglycinemia; non-ketotic hyperglycinemia; nonketotic hyperglycinemia","Name":"Glycine encephalopathy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Amigos Metabólicos","Website__c":"http://www.amigosmetabolicos.org/"},{"Account_Name__c":"Asociación Española para el Estudio de los Errores Congénitos del Metabolismo","Website__c":"www.aecom.com.es"},{"Account_Name__c":"Federación Española de Enfermedades Metabólicas Hereditarias","Website__c":"https://metabolicos.es/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"NKH International Family Network","Website__c":"https://nkh-network.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":"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":"Infancy","Provided_By__c":"ORPHA:407"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:407"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/NKHG"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0751748"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1357","Source__c":"Gene Review","Xref__c":"NBK1357"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237939006","Source__c":"C0751748; MONDO:0011612","Xref__c":"237939006"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84937","Source__c":"C0751748; MONDO:0011612","Xref__c":"C84937"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0751748","Source__c":"C0751748","Xref__c":"C0751748"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9268","Source__c":"MONDO:0011612","Xref__c":"DOID:9268"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS605899","Source__c":"MONDO:0011612","Xref__c":"OMIMPS:605899"},{"URL__c":"https://www.orpha.net/en/disease/detail/407","Source__c":"C0751748; MONDO:0011612; ORPHA:407","Xref__c":"ORPHA:407"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=155625","Source__c":"C0751748","Xref__c":"MEDGEN:155625"},{"URL__c":"https://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia","Source__c":"GARD:0007219","Xref__c":"https://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011612","Source__c":"GARD:0007219","Xref__c":"MONDO:0011612"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020158","Source__c":"C0751748","Xref__c":"D020158"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0008288","Source__c":"C0751748","Xref__c":"HP:0008288"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022973","Xref__c":"423022973"},{"URL__c":"https://www.nkhcrusaders.com/fda-summary"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:407","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005957","HPO_Name__c":"Breathing dysregulation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:407","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:407","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:407","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Acidosis because of respiratory retention of carbon dioxide.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005972","HPO_Name__c":"Respiratory acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:407","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010851","HPO_Name__c":"EEG with burst suppression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:407","HPO_Frequency__c":"Very frequent (80-99%)","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:407","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100247","HPO_Synonym__c":"Recurrent hiccough; Recurrent hiccup; Recurrent synchronous diaphragmatic flutter","HPO_Name__c":"Recurrent singultus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:407","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002123","HPO_Synonym__c":"Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures","HPO_Name__c":"Generalized myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:407","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002033","HPO_Synonym__c":"Poor suck; Poor sucking; Sucking weakness","HPO_Name__c":"Poor suck","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:407","HPO_Frequency__c":"Very frequent (80-99%)","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; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:407","HPO_Frequency__c":"Very frequent (80-99%)","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:407","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012705","HPO_Name__c":"Abnormal metabolic brain imaging by MRS","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:407","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated concentration of glycine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002154","HPO_Synonym__c":"Elevated blood glycine levels; Hyperglycinaemia","HPO_Name__c":"Hyperglycinemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["amt-related glycine encephalopathy"," disorder of glycine cleavage enzyme complex"," gldc-related glycine encephalopathy"," nka"," nkh - non-ketotic hyperglycinemia"," non ketotic hyperglycinemia"," non-ketotic hyperglycinemia"," nonketotic hyperglycinemia"],"spanishId":12518,"spanishName":"encefalopatia-por-glicina"}