{"schema":"https://ver.cy/schemas/card/1.0.0","id":"vr.tr.glycogen-storage-disease","code":"thing-q1421738","url":"https://ver.cy/models/thing/q1421738/","name":"glycogen storage disease","alternateNames":["Aldolase A deficiency","muscular glycogenosis","glycogen storage disease IXd","glycogen storage disease IXb","Glycogen storage disease type XI","glycogen storage disease VI","glycogen storage disease IX","glycogen storage disease VIII","lethal congenital glycogen storage disease of heart","adult polyglucosan body disease","glycogen storage disease III","Glycogen storage disease type 0"],"kind":"thing","status":"published","version":"0.2.0-wave.4","language":"en","classifiers":{"family":"Thing Registry","category":"Cross-cutting context","entryKind":"thing","plane":"XCT","domain":["XCT.STA"],"industry":[],"navPath":"","tags":[],"facets":{}},"whatItIs":"A group of inherited metabolic disorders in which enzyme defects impair the synthesis or breakdown of glycogen, causing abnormal glycogen storage in the liver, muscles or both, numbered as types such as glycogen storage disease type VI, type IX subtypes IXb and IXd, and type XI, with muscular glycogenoses causing exercise intolerance and hepatic forms causing hypoglycaemia, and related enzyme deficiencies such as aldolase A deficiency; management is by specialist metabolic teams with diet and monitoring. The model routes people to clinicians.","purpose":"Let an agent explain glycogen storage diseases and their types, relay genetics, symptoms, diagnosis and general management from metabolic medicine sources, describe the types the registry aliases name, and distinguish glycogen storage diseases from lysosomal storage diseases, diabetes and other metabolic myopathies, routing people to specialists.","scope":{"in":[],"out":[],"boundaries":[]},"distinguishingFeatures":["Enzyme defects","Liver or muscle forms","Numbered types","Specialist management"],"structure":{"bundles":[{"id":"understand","name":"Understand","description":"What glycogen storage diseases are.","layers":[{"id":"definition","name":"Definition","description":"Definition.","findings":[{"id":"definition-finding","name":"Definition","description":"Definition.","questions":[{"text":"What are glycogen storage diseases, and how do they differ from lysosomal storage diseases, diabetes and other metabolic myopathies?","kind":"definition"},{"text":"Is the question about a child or adult with symptoms such as low blood sugar or muscle breakdown, which need a clinician urgently?","kind":"boundary"}]}]},{"id":"types","name":"Types","description":"Types.","findings":[{"id":"types-finding","name":"Types","description":"Types.","questions":[{"text":"What are types VI, IXb, IXd and XI, muscular glycogenosis and aldolase A deficiency?","kind":"definition"},{"text":"Which entry fits the specific type?","kind":"action"}]}]}]},{"id":"science","name":"Science","description":"Biochemistry and genetics.","layers":[{"id":"metabolism","name":"Metabolism","description":"Metabolism.","findings":[{"id":"metabolism-finding","name":"Metabolism","description":"Metabolism.","questions":[{"text":"How do the defective enzymes disrupt glycogen synthesis and breakdown?","kind":"provenance"},{"text":"Which references are standard?","kind":"provenance"}]}]},{"id":"genetics","name":"Genetics","description":"Genetics.","findings":[{"id":"genetics-finding","name":"Genetics","description":"Genetics.","questions":[{"text":"Which genes are involved, and how are the types inherited?","kind":"provenance"},{"text":"Which sources are cited?","kind":"provenance"}]}]}]},{"id":"care","name":"Care","description":"Diagnosis and management.","layers":[{"id":"diagnosis","name":"Diagnosis","description":"Diagnosis.","findings":[{"id":"diagnosis-finding","name":"Diagnosis","description":"Diagnosis.","questions":[{"text":"How are glycogen storage diseases diagnosed with biochemical and genetic testing, in general terms?","kind":"provenance"},{"text":"Which entry fits genetic testing?","kind":"action"}]}]},{"id":"management","name":"Management","description":"Management.","findings":[{"id":"management-finding","name":"Management","description":"Management.","questions":[{"text":"What general management approaches do metabolic teams use, such as diet and enzyme therapy for Pompe disease?","kind":"provenance"},{"text":"Which entry fits enzyme replacement therapy?","kind":"action"}]}]}]},{"id":"context","name":"Context","description":"History and support.","layers":[{"id":"history","name":"History","description":"History.","findings":[{"id":"history-finding","name":"History","description":"History.","questions":[{"text":"How were the glycogen storage diseases discovered and numbered, starting with von Gierke and Cori?","kind":"provenance"},{"text":"Which entry fits the history of metabolic medicine?","kind":"action"}]}]},{"id":"support","name":"Support","description":"Support.","findings":[{"id":"support-finding","name":"Support","description":"Support.","questions":[{"text":"What patient organisations support families?","kind":"provenance"},{"text":"Which entry fits rare disease support organisations?","kind":"action"}]}]}]}]},"agentConduct":{"may":["Explain glycogen storage diseases and their types in general terms, citing medical sources.","Point families to metabolic specialists and patient organizations."],"mustNot":["Give personal dietary or treatment plans for a patient.","Downplay signs of low blood sugar in an infant.","Confuse subtypes listed in the aliases.","Disclose genetic diagnoses without consent."],"requiresHuman":["Any decision about feeding or care for a specific patient."]},"ethics":{"considerations":["Hypoglycaemia in infants can cause lasting harm if missed.","Genetic diagnoses affect whole families' privacy."],"affectedParties":["Patients","Parents and siblings","Clinicians"]},"owners":{"steward":"Each patient and their care team; rare disease registries hold research data.","roles":[],"masterSystems":["Rare disease registries","Newborn screening records"]},"relations":[{"target":"Q1496114","type":"parent","note":"registry parent class"},{"target":"Q18553432","type":"parent","note":"registry parent class"},{"target":"glycogen metabolism disorder","type":"related","note":"in registry terms"},{"target":"glycogen","type":"related"},{"target":"Pompe disease","type":"related","note":"type II"},{"target":"lysosomal storage disease","type":"related"}],"interaction":{"identity":{"applicability":"required","items":["Vercy registry: vr.tr.glycogen-storage-disease","Wikidata: Q1421738 (https://www.wikidata.org/wiki/Q1421738)","ICD-10: E74.0 glycogen storage disease","MeSH: D006008 Glycogen Storage Disease"]},"properties":{"applicability":"not-applicable","items":["overall incidence: about 1 in 20000-43000 note - births, estimates","von Gierke disease: type I, glucose-6-phosphatase note","McArdle disease: type V, muscle phosphorylase note","inheritance: mostly autosomal recessive, some X-linked note"]},"recognition":{"applicability":"optional","items":["Inherited disorders of glycogen metabolism","GSD VI, IXb, IXd, XI, muscular glycogenosis, aldolase A deficiency","Lysosomal storage diseases store other substances; diabetes is insulin-related; other metabolic myopathies involve fats","Not a visible object; in some types an enlarged liver."]},"capabilities":{"applicability":"required","items":["explain types","relay genetics and management","route to specialists","distinguish related disorders"]},"hazards":{"applicability":"required","items":["Agents giving personal medical or dietary advice","Missed hypoglycaemia in infants","Registry aliases mixing subtypes and related deficiencies"]},"interfaces":{"applicability":"required","items":["Newborn screening programmes for some types","Metabolic medicine guidelines","Orphan drug regulations"]},"context":{"applicability":"required","items":["Not applicable; a group of diseases.","hepatic glycogenoses such as types I, III, VI and IX","muscular glycogenoses such as type V McArdle disease","type II Pompe disease, also a lysosomal disorder","rare types such as XI Fanconi-Bickel syndrome","related glycolytic enzyme deficiencies such as aldolase A deficiency"]}},"sources":[{"title":"Wikidata item Q1421738: glycogen storage disease","url":"https://www.wikidata.org/wiki/Q1421738","note":"identity and sense of the item"},{"title":"Wikipedia: Glycogen storage disease","url":"https://en.wikipedia.org/wiki/Glycogen_storage_disease","note":"general description of the item"}],"openQuestions":["Should each numbered type be a separate primary entry?","How should metabolic medicine sources be linked?","The registry entry has merged aliases naming subtypes and a related deficiency; should they be split off?"],"resources":{"spec":"/models/things/publications/thing-q1421738/spec.json"},"provenance":{"origin":"thing registry research (pass 2)","builtFrom":["models/things/publications/thing-q1421738/spec.json"],"providers":["Claude"],"researchStatus":"unreviewed","generatedAt":"2026-09-13T18:08:38Z","builder":"tools/build_cards.py@1.0.0"},"completeness":{"sections":{"classifiers":"filled","whatItIs":"filled","purpose":"filled","distinguishingFeatures":"filled","structure":"filled","agentConduct":"filled","ethics":"filled","owners":"filled","relations":"filled","interaction.identity":"filled","interaction.properties":"not-applicable","interaction.recognition":"filled","interaction.capabilities":"filled","interaction.hazards":"filled","interaction.interfaces":"filled","interaction.context":"filled","sources":"filled"},"notes":{"_gate":"Published through the thing publication gate 1.0 on 2026-10-06T19:51:54+00:00: completeness 1.00; sense: Wikidata description; 2 live sources; review by codex: pass","interaction.properties":"Plane XCT: no invented physical properties."},"score":1.0}}