Carnitine Deficiency malady

Wikipedia: Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine...⁴⁴ more...

MalaCards: Carnitine Deficiency, also known as carbamoyl-phosphate synthase i deficiency disease, is related to systemic primary carnitine deficiency disease and visceral steatosis. An important gene associated with Carnitine Deficiency is SLC22A5 (solute carrier family 22 (organic cation/carnitine transporter), member 5), and among its related pathways are Urea cycle and Metabolic pathways. The compounds acyl-coa and carbamoyl phosphate have been mentioned in the context of this disorder. Affiliated tissues include heart, colon and liver, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

carnitine deficiency 7 43 carbamoyl-phosphate synthase i deficiency disease 43

carnitine deficiency disease 8

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

(show top 50)    (show all 92)

id	Related Disease	Score	Top Affiliating Genes
1	systemic primary carnitine deficiency disease	35.4	SLC22A2, SLC22A5
2	visceral steatosis	28.8	CPT1A, CPT1B, SLC22A5
3	glutaric acidemia type ii	13.6	ETFDH, ETFB
4	glutaricaciduria	13.5	ETFDH, ETFB
5	cpt ii deficiency	13.5	CPT2, CPT1A
6	carnitine palmitoyl transferase 1 deficiency	13.5	CPT1B, CPT1A
7	neutral lipid storage disease	13.4	ABHD5, PNPLA2
8	3 methylcrotonyl-coa carboxylase 1 deficiency	13.4	MCCC2, MCCC1
9	cpt deficiency	13.4	CPT1A, CPT1B, CPT2
10	carnitine-acylcarnitine translocase deficiency	13.4	CPT2, CPT1A, SLC25A20
11	reye syndrome	13.3	SLC22A5, OTC, ETFDH
12	propionic acidemia	13.3	CRAT, OTC, NAGS
13	myoglobinuria recurrent	13.2	CPT2, ACADVL
14	short-chain acyl-coa dehydrogenase deficiency	13.1	ACADS, OTC
15	medium-chain acyl-coenzyme a dehydrogenase deficiency	13.1	ACADVL, ACADS
16	ornithine carbamoyltransferase deficiency	13.0	CPS1, OTC
17	urea cycle disorder	13.0	NAGS, OTC
18	catecholaminergic polymorphic ventricular tachycardia	13.0	SLC25A20, ACADVL, PIK3C2A
19	malignant hyperthermia	13.0	CPT2, ACADS, PIK3C2A
20	lipid storage disease	12.9	PNPLA2, ABHD5
21	hyperargininemia	12.9	ACADVL, ACADS, OTC, NAGS
22	adrenocortical carcinoma	12.9	CREB1, CRAT, CHKA
23	vibrio vulnificus infection	12.8	EPO, PIK3C2A
24	fetal alcohol spectrum disorder	12.8	CREB1, SRF
25	lactic acidosis	12.8	ETFDH, GLUD1, PIK3C2A
26	sudden infant death syndrome	12.8	CPT1A, SLC22A5, SLC25A20, ACADVL, ACADS
27	fatty acid oxidation disorders	12.8	CPT2, CPT1A, SLC25A20, ACADVL, ACADS
28	rhabdomyolysis, cerivastatin-induced	12.8	CPT2, ACADVL, CHKA, PIK3C2A
29	protein s deficiency	12.6	HADHB, CPT2, SLC25A20, PIK3C2A
30	arrhythmogenic right ventricular dysplasia/cardiomyopathy multi-gene panels	12.6	SLC22A2, SLC25A20, ACADVL, CHKA, PIK3C2A
31	congenital heart defect	12.5	ACADVL, SRF, CHKA, PIK3C2A
32	compartment syndrome	12.5	SLC17A5, CHKA, PIK3C2A
33	creatine phosphokinase	12.5	SLC17A5, CHKA, PIK3C2A
34	aicardi-goutieres syndrome	12.4	CPT2, SLC17A5, ACADS, OTC
35	hyperammonemia with hypoornithinemia	12.4	CPS1, SLC25A20, ACADS, OTC, GLUD1, NAGS
36	ullrich congenital muscular dystrophy	12.3	PIK3C2A, CHKA, CREB1
37	vlcad deficiency	12.3	CPT1A, ACADVL, ACADS, OTC, ETFDH, ETFB
38	respiratory failure	12.3	PIK3C2A, ACADVL, CPT2, EPO
39	leukomalacia	12.2	CHKA, SLC17A5, EPO
40	congestive heart failure	12.0	EPO, CPT2, CPT1A, JUN, PIK3C2A
41	hepatoblastoma	11.9	EPO, SLC25A20, ACADS, CRAT, OTC, JUN
42	hyperlipidemia	11.9	CPT1B, SLC17A5, PNPLA2, CHKA, PIK3C2A
43	primary biliary cirrhosis	11.9	SLC22A5, SLC17A5, SLC22A4, SRF, PIK3C2A
44	fatty liver disease	11.9	CPT2, CPT1A, SLC17A5, ACADVL, GLUD1, CHKA
45	polymyositis	11.8	SLC17A5, JUN, CHKA, PIK3C2A
46	chronic obstructive pulmonary disease	11.7	EPO, SLC22A2, SLC22A5, SLC22A4, CREB1, JUN
47	myelodysplastic syndrome	11.7	EPO, CPT2, CPT1A, SLC22A2, SLC22A5, SLC17A5
48	essential hypertension	11.6	EPO, CPT2, CPT1B, CPT1A, SLC22A2, SLC22A5
49	coronary heart disease	11.6	SLC17A5, CRAT, SRF, MADD, CHKA, PIK3C2A
50	neuropathy	11.5	EPO, HADHB, SLC22A5, ACADS, JUN, CHKA

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to carnitine deficiency:

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MGI Mouse Phenotypes related to carnitine deficiency:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	INF	EPO, HADHB, SLC22A5, , , ABHD5
2	homeostasis/metabolism phenotype	MP:0005376	INF	PIK3C2A, , SLC17A5, SLC22A5, SLC22A2,
3	mortality/aging	MP:0010768	INF	, SLC17A5, SLC22A5, , CPT1A, CPT1B
4	growth/size phenotype	MP:0005378	INF	CRAT, CREB1, ABHD5, , SLC22A5,

Articles related to carnitine deficiency:

(show all 38)

id	Title	Authors	Year	Affiliating Genes
1	Genotype-phenotype correlation in primary carnitine deficiency. (21922592)	Rose E.C.... Longo N.	2011	SLC22A5
2	Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. (20574985)	Li F.Y.... Wong L.J.	2010	SLC22A5
3	Mechanistic contribution of carnitine deficiency to g eriatric frailty. (20223299)	Crentsil V.	2010	SLC22A5, SLC22A2
4	Maternal systemic primary carnitine deficiency uncove red by newborn screening: clinical, biochemical, and molecular aspects. (20027113)	El-Hattab A.W.... Wong L.J.	2010	SLC22A5, SLC22A2
5	Cardiomyopathy and carnitine deficiency. (18337137)	Amat di San Filippo C.... Longo N.	2008	SLC22A5
6	Expanded newborn screening identifies maternal primary carnitine deficiency. (17126586)	Schimmenti L.A.... Longo N.	2007	SLC22A5
7	Association of carnitine deficiency in Indian continu ous ambulatory peritoneal dialysis patients with anemia, erythropoietin use, re sidual renal function, and diabetes mellitus. (17556311)	Ramalakshmi S.... Abraham G.	2007	EPO
8	Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice. (17884651)	Shekhawat P.S.... Ganapathy V.	2007	SLC22A5
9	Carnitine deficiency in pregnancy. (17666635)	Donnelly C.T.... Wing D.A.	2007	SLC22A5
10	Pharmacological rescue of carnitine transport in primary carnitine deficiency. (16652335)	Amat di San Filippo C.... Longo N.	2006	SLC22A5
11	Carnitine depletion in rat pups from mothers given mildronate: a model of carnitine deficiency in late fetal and neonatal life. (15979102)	Peschechera A.... Ricciolini R.	2005	BBOX1
12	Carnitine deficiency disorders in children. (15591002)	Stanley C.A.	2004	SLC25A20
13	Silent and symptomatic primary carnitine deficiency w ithin the same family due to identical mutations in the organic cation/carnitin e transporter OCTN2. (14605509)	Spiekerkoetter U.... Mayatepek E.	2003	SLC22A5
14	Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency. (14506273)	Amat di San Filippo C.... Longo N.	2003	SLC22A5, SLC22A4
15	Hyperammonemia in carnitine-deficient adult JVS mice used by starvation. (12602512)	Li X.X.... Saheki T.	2002	JUN
16	Primary carnitine deficiency in a male adult. (12939109)	Karmaniolas K.... Migdalis I.	2002	PIK3C2A
17	Novel mRNA molecules are induced in hypertrophied ventricles of carnitine-deficient mice and belong to a family of up-regulated gene in cells overexpressing c-erbB-2. (12359334)	Fukumaru S.... Saheki T.	2002	CDV3
18	Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency. (12408185)	Rahbeeni Z.... Rashed M.S.	2002	SLC22A5
19	A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. (12204000)	Tang N.L.... Zhang W.M.	2002	SLC22A5
20	Development and characterization of an animal model o f carnitine deficiency. (11248709)	Spaniol M.... KrAohenbA1hl S.	2001	SLC22A5
21	Phenotype and genotype variation in primary carnitine deficiency. (11715001)	Wang Y.... Longo N.	2001	SLC22A5
22	Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. (11058897)	Wang Y.... Longo N.	2000	SLC22A5
23	Genomic organization and mapping of mouse CDV (carnitine deficiency- associated gene expressed in ventricle)-1 and its related CDV-1R gene. (11130971)	Higashi M.... Saheki T.	2000	CREB1, SRF, IFT81
24	Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency. (10612840)	Mayatepek E.... Tsuji A.	2000	SLC22A5
25	Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. (9916797)	Nezu J.... Tsuji A.	1999	SLC22A5
26	Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. (10072434)	Tang N.L.... Hjelm N.M.	1999	SLC22A5, SLC22A2
27	Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. (10480371)	Vaz F.M.... Wanders R.J.A.	1999	SLC22A5
28	Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. (10425211)	Burwinkel B.... Kilimann M.W.	1999	SLC22A5
29	Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. (10051646)	Wang Y.... Longo N.	1999	SLC22A5
30	Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. (10545605)	Koizumi A.... Tsuji A.	1999	SLC22A5
31	Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q. (9634512)	Shoji Y.... Takada G.	1998	SLC22A5
32	Increased expression of carnitine palmitoyltransferase I gene is repressed by administering L-carnitine in the hearts of carnitine-deficient juvenile visceral steatosis mice. (8830050)	Uenaka R.... Ohta S.	1996	CPT1A, CPT1B
33	A preterm infant with secondary carnitine deficiency due to MCT formula--effective treatment of L-carnitine. (8036622)	Ishida A.... Takada G.	1994	CHKA, SLC17A5
34	Clinical and biochemical aspects of carnitine deficie ncy and insufficiency: transport defects and inborn errors of beta-oxidation. (1489518)	Angelini C.... Martinuzzi A.	1992	HADHB
35	Muscle carnitine deficiency in patients with severe p eripheral vascular disease. (1914091)	Brevetti G.... Marcialis A.	1991	CRAT
36	Carnitine deficiency associated with ornithine transcarbamylase deficiency. (1908679)	Mayatepek E.... Gunning W.T.	1991	OTC
37	Primary carnitine deficiency. (2199596)	Scholte H.R.... Ross J.D.	1990	GLUD1, CRAT
38	A case of carbamylphosphate synthetase-I deficiency a ssociated with secondary carnitine deficiency--L-carnitine treatment of CPS-I d eficiency. (2303075)	Mori T.... Tsugawa S.	1990	OTC

Genes related to carnitine deficiency according to GeneCards:

(show all 27)

id	Symbol	Description	Score	GeneCards Section Context
1	SLC22A5	solute carrier family 22 (organic cation/carnitine transporter), member 5	11.1	Publications, Summaries
2	IFT81	intraflagellar transport 81 homolog (Chlamydomonas)	11.1	Aliases & Descriptions, Functions, Orthologs, Publications
3	CDV3	CDV3 homolog (mouse)	11.1	Aliases & Descriptions, Publications, Orthologs
4	SLC22A2	solute carrier family 22 (organic cation transporter), member 2	11.0	Publications
5	ETFB	electron-transfer-flavoprotein, beta polypeptide	11.0
6	ETFDH	electron-transferring-flavoprotein dehydrogenase	11.0
7	ABHD5	abhydrolase domain containing 5	11.0
8	CRAT	carnitine O-acetyltransferase	11.0	Publications
9	CPT2	carnitine palmitoyltransferase 2	11.0
10	CPT1B	carnitine palmitoyltransferase 1B (muscle)	11.0	Publications
11	SLC25A20	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	11.0	Publications
12	SLC22A4	solute carrier family 22 (organic cation/ergothioneine transporter), member 4	11.0	Publications
13	BBOX1	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	11.0	Publications
14	MCCC1	methylcrotonoyl-CoA carboxylase 1 (alpha)	11.0
15	HADHB	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	11.0	Publications
16	CPT1A	carnitine palmitoyltransferase 1A (liver)	11.0	Publications
17	SRF	serum response factor (c-fos serum response element-binding transcription factor)	11.0	Publications
18	CHKA	choline kinase alpha	11.0	Publications
19	GLUD1	glutamate dehydrogenase 1	11.0	Publications
20	OTC	ornithine carbamoyltransferase	11.0	Publications
21	MCCC2	methylcrotonoyl-CoA carboxylase 2 (beta)	11.0
22	MADD	MAP-kinase activating death domain	11.0
23	PIK3C2A	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	11.0	Publications
24	SLC17A5	solute carrier family 17 (anion/sugar transporter), member 5	11.0	Publications
25	CREB1	cAMP responsive element binding protein 1	11.0	Publications
26	EPO	erythropoietin	11.0	Publications
27	JUN	jun proto-oncogene	11.0	Publications

Pathways related to carnitine deficiency according to GeneDecks:

(show all 15)

id	Pathway	Score	Top Affiliating Genes
1	Urea cycle38	INF	, OTC,
2	Metabolic pathways20	INF	HADHB, , , , OTC, GLUD1
3	Arginine and proline metabolism20	INF	, GLUD1, OTC,
4	Fatty acid metabolism20	INF	, HADHB, CPT2, CPT1B, CPT1A,
5	Organic cation transport38	10.2	SLC22A4, SLC22A5
6	AMPK Enzyme Complex Pathway36	9.7	CPT2, CPT1B, CPT1A, CRAT
7	Development_Leptin signaling via PI3K-dependent pathway41	9.4	CPT1B, CPT1A, CREB1
8	Development Leptin signaling via PI3K-dependent pathway10	9.3	CPT1B, CPT1A, CREB1
9	Cellular Transformation by HTLV136	9.2	JUN, SRF, CREB1
10	Immune response_IL-6 signaling pathway41	9.2	CREB1, SRF, JUN
11	Immune response IL-6 signaling pathway10	9.2	CREB1, SRF, JUN
12	HIF1Alpha Pathway36	8.5	JUN, CREB1, EPO
13	Fatty acid, triacylglycerol, and ketone body metabolism38	INF	CPT2, CPT1B, SLC25A20,
14	Metabolism of lipids and lipoproteins38	INF	CPT1A, , ABHD5, CRAT, CHKA
15	Valine, leucine and isoleucine degradation20	INF	HADHB, , MCCC2, MCCC1

Compounds related to carnitine deficiency according to GeneDecks:

(show top 50)    (show all 88)

id	Compound	Score	Top Affiliating Genes
1	acyl-coa32	INF	SLC25A20, CPT1A, CPT1B, CPT2, HADHB,
2	carbamoyl phosphate32	INF	, GLUD1, OTC,
3	glutamate32	INF	GLUD1, PIK3C2A, , CREB1, CHKA,
4	sodium benzoate34	INF	OTC, ,
5	carnitine32	INF	CHKA, BBOX1, GLUD1, OTC, SRF, CRAT
6	arginine32	INF	GLUD1, , , SLC22A2, SLC22A5, SLC25A20
7	s-adenosylmethionine32 9 18 9	INF	CPT2, SLC25A20, , , CPT1A
8	n-acetylglutamate32	INF	, OTC,
9	ornithine32 18	INF	, GLUD1, , SRF, OTC
10	urea32 9 18 9	INF	, EPO, , SLC17A5, OTC, GLUD1
11	moxa32	10.3	SLC22A2, SLC22A4, SLC22A5
12	cirazoline32	10.3	SLC22A2, SLC22A5, SLC22A4
13	moxonidine32	10.2	SLC22A4, SLC22A5, SLC22A2
14	etomoxir32	10.1	CPT1A, CPT2, CPT1B
15	malonyl-coa32 18	11.1	CPT1A, CPT1B, CPT2
16	pristanic acid32 18	11.0	SLC25A20, CPT2, CPT1A
17	Aminohippurate9 9	11.0	SLC22A2, SLC22A5, SLC22A4
18	putrescine32 9 18 9	12.8	SLC22A5, SLC22A4, BBOX1, SLC22A2, OTC
19	3-methylcrotonyl-coa32 18	10.7	MCCC1, HADHB, MCCC2
20	quinine32 9 9	11.6	SLC22A2, SLC22A5, SLC17A5, SLC22A4
21	desipramine32 34 9 9	12.6	CREB1, SLC22A2, SLC22A5, SLC22A4
22	bezafibrate32 9 9	11.3	CPT1A, SLC17A5, CRAT, PIK3C2A
23	L-Carnitine9 18 9	11.3	CPT2, SLC22A5, BBOX1, CRAT, SLC22A4, SLC25A20
24	thiamine32 9 18 9	12.2	SLC22A5, SLC17A5, SLC22A2, EPO
25	citrate32	9.2	CPT2, CPT1A, CRAT, GLUD1, CHKA, PIK3C2A
26	cimetidine32 9 9	11.1	SLC22A5, SLC22A4, EPO, SLC22A2
27	valproate32	8.9	SLC22A5, SLC17A5, CREB1, OTC, GLUD1
28	uric acid32 18	9.8	SRF, SLC17A5, SLC22A2, PIK3C2A, CHKA, GLUD1
29	choline32 9 18 9	11.8	CRAT, ETFDH, GLUD1, CHKA, SLC22A4, PIK3C2A
30	epinephrine32 9 18 9	11.6	SLC22A5, SLC22A2, SLC17A5, CREB1, PIK3C2A, CRAT
31	norepinephrine32 9 18 9	11.4	SLC22A5, SLC17A5, CREB1, SRF, CRAT, PIK3C2A
32	pyruvate32	8.4	GLUD1, PIK3C2A, OTC, CPT2, CPT1B, CPT1A
33	acetylcholine32 9 18 9	11.4	PIK3C2A, SRF, CHKA, GLUD1, SLC22A2, SLC22A5
34	glycogen32 18	8.9	CREB1, CPT2, CPT1B, CPT1A, SLC17A5, OTC
35	iron32 18	8.9	ETFDH, SRF, CRAT, SLC17A5, EPO, BBOX1
36	aspartate32	7.6	CHKA, CPT1A, CRAT, OTC, PIK3C2A, SLC17A5
37	testosterone32 9 18 9	10.0	PIK3C2A, CHKA, SRF, SLC22A4, CRAT, CREB1
38	oxygen32 18	7.9	GLUD1, CRAT, SRF, CPT1A, EPO, SLC17A5
39	lactate32	6.2	GLUD1, CHKA, PIK3C2A, CREB1, EPO, SRF
40	fatty acid32	INF	CHKA, , , BBOX1, GLUD1, ETFDH
41	Coenzyme A9 18 9	INF	, CPT1A, CPT1B, CPT2, HADHB, CRAT
42	glucose32	INF	GLUD1, SLC25A20, HADHB, , OTC
43	creatinine32	INF	PIK3C2A, OTC, SRF, CRAT, SLC22A2, SLC25A20
44	acetyl-coa32 18	INF	, , GLUD1, CRAT, , CPT1A
45	lipid32	INF	SLC25A20, CPT2, CRAT, CREB1, CPT1A, SLC17A5
46	valproic acid32 34 9 18 9	INF	CREB1, , SLC22A5, SLC17A5, OTC
47	glycerol32 9 18 9	INF	PIK3C2A, CPT2, CPT1B, CPT1A, OTC, GLUD1
48	palmitate32	INF	HADHB, , CPT1B, CPT2, CPT1A
49	acetyl-l-carnitine32	INF	OTC, CPT1A, CRAT,
50	atp32	INF	SLC17A5, SLC22A2, CPT1A, CPT2, , PIK3C2A

Cellular components related to carnitine deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial inner membrane	GO:005743	INF	, CPT1A, CPT2, HADHB, SLC25A20,
2	mitochondrion	GO:005739	INF	BBOX1, HADHB, CPT2, CPT1B, CPT1A, SLC25A20
3	mitochondrial matrix	GO:005759	INF	, , , OTC, ETFDH, ETFB
4	mitochondrial nucleoid	GO:042645	INF	, , HADHB

Biological processes related to carnitine deficiency according to GeneDecks:

(show all 19)

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular lipid metabolic process	GO:044255	INF	HADHB, CPT2, CPT1B, CPT1A, SLC25A20,
2	fatty acid beta-oxidation	GO:006635	INF	HADHB, CPT2, CPT1B, CPT1A, ,
3	triglyceride catabolic process	GO:019433	INF	, ABHD5,
4	fatty acid beta-oxidation using acyl-CoA dehydrogenase	GO:033539	INF	ETFDH, ,
5	cellular nitrogen compound metabolic process	GO:034641	INF	, OTC, GLUD1, MCCC2, MCCC1, BBOX1
6	urea cycle	GO:000050	INF	, OTC,
7	quaternary ammonium group transport	GO:015697	10.3	SLC22A5, SLC22A4
8	carnitine transport	GO:015879	10.2	SLC22A5, SLC22A4
9	carnitine metabolic process	GO:009437	10.0	CPT1A, SLC22A4
10	carnitine shuttle	GO:006853	9.9	CPT2, CPT1B, CPT1A, SLC25A20
11	regulation of fatty acid oxidation	GO:046320	9.9	CPT2, CPT1B, CPT1A, SLC25A20
12	leucine catabolic process	GO:006552	9.8	MCCC2, MCCC1
13	response to drug	GO:042493	INF	JUN, OTC, CREB1, , CPT1A
14	citrulline biosynthetic process	GO:019240	INF	, OTC
15	negative regulation of sequestering of triglyceride	GO:010891	INF	ABHD5,
16	arginine biosynthetic process	GO:006526	INF	OTC,
17	small molecule metabolic process	GO:044281	INF	HADHB, ABHD5, , , SLC25A20, SLC22A2
18	anion homeostasis	GO:055081	INF	OTC,
19	positive regulation of triglyceride catabolic process	GO:010898	INF	, ABHD5

Molecular functions related to carnitine deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	carnitine transporter activity	GO:015226	10.0	SLC22A5, SLC22A4
2	carnitine O-palmitoyltransferase activity	GO:004095	9.9	CPT1A, CPT1B, CPT2
3	methylcrotonoyl-CoA carboxylase activity	GO:004485	9.9	MCCC1, MCCC2
4	quaternary ammonium group transmembrane transporter activity	GO:015651	9.8	SLC22A4, SLC22A5
5	cAMP response element binding	GO:035497	9.3	JUN, CREB1