Arginine:glycine amidinotransferase deficiency
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
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Arginine:glycine amidinotransferase deficiency
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
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Arginine:glycine amidinotransf ...... r was first described in 2000.
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DiseasesDB
geneReviewsId
geneReviewsName
Cerebral creatine deficiencies
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ICD10
OMIM id
Wikipage page ID
58,584,485
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998,108,564
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label
Arginine:glycine amidinotransferase deficiency
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name
Arginine:glycine amidinotransferase deficiency
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caption
Creatine
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DiseasesDB
field
GeneReviewsName
Cerebral creatine deficiencies
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GeneReviewsNBK
NBK37914
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ICD
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E72.9
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name
Arginine:glycine amidinotransferase deficiency
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OMIM
synonyms
AGAT deficiency
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comment
Arginine:glycine amidinotransf ...... iency. This disorder was first
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