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MCID: LRG010
MIFTS: 12
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L-Arginine:glycine Amidinotransferase Deficiency
Categories:
Rare diseases
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MalaCards integrated aliases for L-Arginine:glycine Amidinotransferase Deficiency:
Name: L-Arginine:glycine Amidinotransferase Deficiency
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Classifications:External Ids:
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NIH Rare Diseases :
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L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability . Other signs and symptoms may include seizures , delayed language development, muscle weakness, failure to thrive , autistic behaviors , and delayed motor milestones (i.e. walking, sitting). AGAT deficiency is caused by changes (mutations ) in the GATM gene and is inherited in an autosomal recessive manner. Treatment of AGAT deficiency is focused on increasing cerebral creatine levels and generally consists of supplementation with creatine monohydrate .
MalaCards based summary : L-Arginine:glycine Amidinotransferase Deficiency, also known as arginine:glycine amidinotransferase deficiency, is related to cerebral creatine deficiency syndrome 3 and cerebral creatine deficiency syndrome. An important gene associated with L-Arginine:glycine Amidinotransferase Deficiency is GATM (Glycine Amidinotransferase). Affiliated tissues include brain. |
Diseases related to L-Arginine:glycine Amidinotransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:(show all 11)
Graphical network of the top 20 diseases related to L-Arginine:glycine Amidinotransferase Deficiency:
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MalaCards organs/tissues related to L-Arginine:glycine Amidinotransferase Deficiency:40
Brain
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Articles related to L-Arginine:glycine Amidinotransferase Deficiency:(show all 11)
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Genes related to L-Arginine:glycine Amidinotransferase Deficiency (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for L-Arginine:glycine Amidinotransferase Deficiency.
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