• Facets (new session)
• Description
• Metadata
• Settings
  • Rule: ActivityStreamsMapasEquivalentb3sb3sifpdbprdf-labelfacetshttp://dbpedia.org/resource/inference/rules/dbpedia#http://dbpedia.org/resource/inference/rules/opencyc#http://dbpedia.org/resource/inference/rules/umbel#http://dbpedia.org/resource/inference/rules/yago#http://dbpedia.org/schema/property_rules#http://www.ontologyportal.org/inference/rules/SUMO#http://www.ontologyportal.org/inference/rules/WordNet#http://www.w3.org/2002/07/owl#ldpoplwebskos-transurn:det:rdf:labelvirtrdf-labelvirtrdf-urlNone
    
  • Inverse Functional Properties: Disabled (fastest) Apply to subjects only Apply to objects only Apply to both subjects and objects
  • "Same As": Disabled (fastest) Apply to subjects only Apply to objects only Apply to both subjects and objects (recommended) Apply to subjects, objects and predicates (not recommended on big datasets) Apply to predicates only (special use cases only)

About: Arginine:glycine amidinotransferase deficiency     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseasedisease New Facet based on Instances of this Class

Arginine:glycine amidinotransferase deficiency or AGAT deficiency is an autosomal recessive cerebral creatine deficiency caused by a deficiency of the enzyme arginine:glycine amidinotransferase. This enzyme deficiency results in decreased creatine synthesis, and is caused by biallelic pathogenic variants in GATM. Individuals with AGAT deficiency are intellectually disabled and have muscle weakness. The symptoms of AGAT deficiency are caused by the lack of creatine in specific tissues, most notably muscle and brain. Oral creatine supplementation can be used to treat AGAT deficiency, with early intervention providing the best results. All creatine deficiencies are rare, and there have been fewer than 20 individuals reported in medical literature with AGAT deficiency. This disorder was first