H00849 | |
H number | H00849 |
Name | Cerebral creatine deficiency syndrome |
Description | Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2), and arginine:glycine amidinotransferase deficiency (CCDS3). Intellectual disability and seizures are common to all three disorders. CCDS1 is the creatine transporter (SLC6A8) deficiency. CCDS2 and CCDS3 are creatine biosynthesis disorders and inherited in an autosomal recessive manner. |
Category | Inherited metabolic disorder |
Network | nt06033 Glycine, serine and arginine metabolism |
Gene | (CCDS1) SLC6A8 [HSA:6535] [KO:K05041] (CCDS2) GAMT [HSA:2593] [KO:K00542] (CCDS3) GATM [HSA:2628] [KO:K00613] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C53.4 ICD-10: E72.8 MeSH: C535598 C567192 C537622 OMIM: 300352 612736 612718 |
Reference | PMID:19879361 AUTHORS Braissant O, Beard E, Torrent C, Henry H TITLE Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. JOURNAL Neurobiol Dis 37:423-33 (2010) DOI:10.1016/j.nbd.2009.10.022 PMID:20301745 AUTHORS Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS TITLE Creatine Deficiency Syndromes JOURNAL GeneReviews (1993) PMID:11326334 (CCDS1) AUTHORS Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C TITLE X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. JOURNAL Am J Hum Genet 68:1497-500 (2001) DOI:10.1086/320595 PMID:8651275 (CCDS2) AUTHORS Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K TITLE Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. JOURNAL Am J Hum Genet 58:914-22 (1996) PMID:11555793 (CCDS3) AUTHORS Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G TITLE Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. JOURNAL Am J Hum Genet 69:1127-33 (2001) DOI:10.1086/323765 |