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L-Arginine:glycine amidinotransferase (AGAT; EC 2.1.4.1) is the enzyme that catalyses the transfer of an amidino group from L-arginine to glycine. The products are L-ornithine and glycocyamine, also known as guanidinoacetate, the immediate precursor of creatine. Creatine and its phosphorylated form play a central role in the energy metabolism ...
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 .
2628 67092 Ensembl ENSG00000171766 ENSMUSG00000027199 UniProt P50440 Q9D964 RefSeq (mRNA) NM_001482 NM_001321015 NM_025961 RefSeq (protein) NP_001307944 NP_001473 NP_080237 Location (UCSC) Chr 15: 45.36 – 45.4 Mb Chr 2: 122.42 – 122.44 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene ...
There are also two enzymatic defects of creatine biosynthesis, arginine:glycine amidinotransferase deficiency (AGAT deficiency), caused by variants in GATM gene and guanidinoacetate methyltransferase deficiency (GAMT deficiency), caused by variants in GAMT gene. The two single enzyme defects are both inherited in an autosomal recessive manner. [2]
The women with the highest levels of IgM anti-PC had a 73% lower risk of CVD than those in the group with the lowest levels. The reduction was most evident in the risk of ischemic heart disease ...
For people with healthy cholesterol levels, eating a moderate amount of dairy products (up to 200 grams per day), whether low or full-fat, may not negatively affect their heart disease risk.
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The other two types of CCD are guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency. Clinical presentation of CTD is similar to that of GAMT and AGAT deficiency. [4] [1] CTD was first identified in 2001 with the presence of a hemizygous nonsense change in SLC6A8 in a male patient. [1]