Creatine Deficiency Syndrome malady

MalaCards: Creatine Deficiency Syndrome, also known as cerebral creatine deficiency syndromes, is related to cerebritis and agat deficiency. An important gene associated with Creatine Deficiency Syndrome is SLC6A8 (solute carrier family 6 (neurotransmitter transporter, creatine), member 8), and among its related pathways are Arginine and proline metabolism and Glycine, serine and threonine metabolism. The compounds ornithine and guanidinoacetate have been mentioned in the context of this disorder. Affiliated tissues include brain.

GeneReviews summary for creatine

creatine deficiency syndrome 7 cerebral creatine deficiency syndromes 15 16

creatine deficiency syndromes 15 16 malnutrition 43

Diseases related to creatine deficiency syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 318)

id	Related Disease	Score	Top Affiliating Genes
1	cerebritis	28.1	SLC6A8, GATM, GAMT
2	agat deficiency	27.9	GAMT, GATM
3	guanidinoacetate methyltransferase deficiency	27.8	GATM, GAMT
4	hypotonia	12.0	SLC6A8, GAMT
5	seizures	12.0	SLC6A8, GAMT
6	epilepsy syndrome	11.9	GAMT, SLC6A8
7	bilirubin metabolic disorder	11.8	GATM, GAMT
8	mental retardation syndrome	11.7	SLC6A8, GATM, GAMT
9	intellectual disability	11.6	GAMT, GATM, SLC6A8
10	protein-energy malnutrition	8.9
11	x-linked creatine deficiency	7.7
12	peritonitis	7.5
13	diabetes mellitus	6.5
14	atherosclerosis	6.5
15	alcoholism	6.3
16	hepatitis	6.3
17	anemia	6.0
18	anorexia nervosa	6.0
19	pancreatitis	6.0
20	carcinoma	5.6
21	diarrhea	5.6
22	insulin resistance	5.6
23	rickets	5.6
24	uremia	5.6
25	immunodeficiency	5.1
26	kwashiorkor	5.1
27	liver cirrhosis	5.1
28	marasmus	5.1
29	nutritional deficiency disease	5.1
30	overnutrition	5.1
31	pulmonary disease	5.1
32	ancylostomiasis	5.1
33	chronic obstructive pulmonary disease	5.1
34	cystic fibrosis	5.1
35	fibrosis	5.1
36	hyperhomocysteinemia	5.1
37	abcb11-related intrahepatic cholestasis	4.2
38	antigen-peptide-transporter 2 deficiency	4.2
39	brill-zinsser disease	4.2
40	cd45 deficiency	4.2
41	congenital adrenal insufficiency	4.2
42	citrullinemia	4.2
43	enolase deficiency type 4	4.2
44	fructose-bisphosphatase deficiency	4.2
45	gm2 activator deficiency	4.2
46	hartnup disease	4.2
47	interleukin 2 receptor alpha chain deficiency	4.2
48	lipodystrophy	4.2
49	mhc class ii deficiency, complementation group b	4.2
50	ogden syndrome	4.2

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to creatine deficiency syndrome:

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Articles related to creatine deficiency syndrome:

(show all 14)

id	Title	Authors	Year	Affiliating Genes
1	Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevan ce to creatine deficiency syndromes. (19879361)	Braissant O.... Henry H.	2010	SLC6A8
2	Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study. (17353334)	Bianchi M.C.... Cioni G.	2007	GATM
3	Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes. (18428409)	Young S.... Wood T.	2007	GAMT, GATM
4	Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. (18652076)	Stockler S.... Salomons G.S.	2007	GAMT, GATM
5	Molecularly imprinted solid-phase extraction combined with molecularly imprinted polymer-sensor: a diagnostic tool applicable to creatine deficiency syndrome. (17472218)	Sharma P.S.... Prasad B.B.	2007	GAMT
6	Diagnosis and treatment of brain creatine deficiency syndromes (16941429)	Arias-Dimas A.... Campistol J.	2006	GAMT, GATM
7	High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. (17101918)	Lion-Francois L.... Des Portes V.	2006	GAMT, GATM, SLC6A8
8	Creatine deficiency syndromes (15800449)	Cheillan D.... Vianey-Saban C.	2005	GAMT, GATM
9	1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter. (15856249)	Sijens P.E.... Oudkerk M.	2005	GAMT
10	Biochemical and clinical characteristics of creatine deficiency syndromes. (15625559)	Sykut-Cegielska J.... Stockler-Ipsiroglu S.	2004	GAMT, GATM
11	Creatine deficiency syndromes. (12701824)	Schulze A.	2003	GAMT, GATM
12	X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (12210795)	Bizzi A.... Uziel G.	2002	SLC6A8
13	X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. (11326334)	Salomons G.S.... Jakobs C.	2001	SLC6A8
14	Creatine Deficiency Syndromes (20301745)	Mercimek-Mahmutoglu S.... StAPckler-Ipsiroglu S.	1993	SLC6A8

Genes related to creatine deficiency syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SLC6A8	solute carrier family 6 (neurotransmitter transporter, creatine), member 8	11.1	Publications, Summaries
2	GAMT	guanidinoacetate N-methyltransferase	11.0	Publications
3	GATM	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	11.0	Publications

Pathways related to creatine deficiency syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Arginine and proline metabolism20	9.1	GATM, GAMT
2	Glycine, serine and threonine metabolism20	8.8	GATM, GAMT
3	Metabolism of amino acids and derivatives38	8.4	SLC6A8, GATM, GAMT

Compounds related to creatine deficiency syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	ornithine32 18	10.1	GATM, GAMT
2	guanidinoacetate32	8.6	SLC6A8, GATM, GAMT
3	Creatine9 18 9	10.5	SLC6A8, GATM, GAMT
4	creatinine32	8.4	GAMT, GATM, SLC6A8
5	arginine32	8.2	SLC6A8, GATM, GAMT

Biological processes related to creatine deficiency syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	creatine biosynthetic process	GO:006601	9.1	GATM, GAMT
2	muscle contraction	GO:006936	8.7	SLC6A8, GAMT
3	creatine metabolic process	GO:006600	8.6	SLC6A8, GATM, GAMT
4	small molecule metabolic process	GO:044281	8.5	SLC6A8, GATM, GAMT
5	cellular nitrogen compound metabolic process	GO:034641	8.4	GAMT, GATM, SLC6A8