← Back to catalogue
Published

glycogen storage disease

vr.tr.glycogen-storage-disease · thing-q1421738

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.

Thing Registry Cross-cutting context XCT.STA
Bundle → Layer → Finding → QuestionsClassifiersWhat it isWhy it existsDistinguishing featuresWhat robots and AI may and may not doMoral aspectsOwnersLinks to other meta-modelsIdentity and identifiersDirect propertiesRecognitionCapabilities and actionsHazards and failure modesStandards and interfacesContext of useSources

Bundle → Layer → Finding → Questions Filled

4 bundles · 8 layers · 8 findings · 16 questions

Understand What glycogen storage diseases are.

Definition

Definition.

Definition

Definition.

  1. What are glycogen storage diseases, and how do they differ from lysosomal storage diseases, diabetes and other metabolic myopathies? definition
  2. Is the question about a child or adult with symptoms such as low blood sugar or muscle breakdown, which need a clinician urgently? boundary

Types

Types.

Types

Types.

  1. What are types VI, IXb, IXd and XI, muscular glycogenosis and aldolase A deficiency? definition
  2. Which entry fits the specific type? action
Science Biochemistry and genetics.

Metabolism

Metabolism.

Metabolism

Metabolism.

  1. How do the defective enzymes disrupt glycogen synthesis and breakdown? provenance
  2. Which references are standard? provenance

Genetics

Genetics.

Genetics

Genetics.

  1. Which genes are involved, and how are the types inherited? provenance
  2. Which sources are cited? provenance
Care Diagnosis and management.

Diagnosis

Diagnosis.

Diagnosis

Diagnosis.

  1. How are glycogen storage diseases diagnosed with biochemical and genetic testing, in general terms? provenance
  2. Which entry fits genetic testing? action

Management

Management.

Management

Management.

  1. What general management approaches do metabolic teams use, such as diet and enzyme therapy for Pompe disease? provenance
  2. Which entry fits enzyme replacement therapy? action
Context History and support.

History

History.

History

History.

  1. How were the glycogen storage diseases discovered and numbered, starting with von Gierke and Cori? provenance
  2. Which entry fits the history of metabolic medicine? action

Support

Support.

Support

Support.

  1. What patient organisations support families? provenance
  2. Which entry fits rare disease support organisations? action

Classifiers Filled

Family
Thing Registry
Category
Cross-cutting context
Entry kind
thing
Plane
XCT
Domain
XCT.STA
Other names and narrower kinds
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

What it is Filled

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.

Why it exists Filled

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.

Distinguishing features Filled

  • Enzyme defects
  • Liver or muscle forms
  • Numbered types
  • Specialist management

What robots and AI may and may not do Filled

Must not

  • 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.

Only with a human decision

  • Any decision about feeding or care for a specific patient.

May

  • Explain glycogen storage diseases and their types in general terms, citing medical sources.
  • Point families to metabolic specialists and patient organizations.

Moral aspects Filled

  • Hypoglycaemia in infants can cause lasting harm if missed.
  • Genetic diagnoses affect whole families' privacy.

Who is affected

  • Patients
  • Parents and siblings
  • Clinicians

Owners Filled

Steward

Each patient and their care team; rare disease registries hold research data.

Master systems

  • Rare disease registries
  • Newborn screening records

Links to other meta-models Filled

parent

  • Q1496114 - registry parent class
  • Q18553432 - registry parent class

related

  • glycogen metabolism disorder - in registry terms
  • glycogen
  • Pompe disease - type II
  • lysosomal storage disease

What else AI and robots need to interact with it Filled

Identity and identifiers required Filled

  • 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

Direct properties not applicable Not applicable

  • 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

Plane XCT: no invented physical properties.

Recognition optional Filled

  • 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 and actions required Filled

  • explain types
  • relay genetics and management
  • route to specialists
  • distinguish related disorders

Hazards and failure modes required Filled

  • Agents giving personal medical or dietary advice
  • Missed hypoglycaemia in infants
  • Registry aliases mixing subtypes and related deficiencies

Standards and interfaces required Filled

  • Newborn screening programmes for some types
  • Metabolic medicine guidelines
  • Orphan drug regulations

Context of use required Filled

  • 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 Filled

  1. Wikidata item Q1421738: glycogen storage disease - identity and sense of the item
  2. Wikipedia: Glycogen storage disease - general description of the item

Open questions

  • 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?

Machine files

Card as JSON Specification Card backlog vercy.card/1

Provenance

thing registry research (pass 2) · unreviewed

Built from: models/things/publications/thing-q1421738/spec.json