MCID: CRN295
MIFTS: 46

Carnitine Palmitoyltransferase I Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Carnitine Palmitoyltransferase I Deficiency

MalaCards integrated aliases for Carnitine Palmitoyltransferase I Deficiency:

Name: Carnitine Palmitoyltransferase I Deficiency 57 12 76 25 75 37 29 55 6 40
Cpt1a Deficiency 12 24 53 59 75
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency 12 53 59
Hepatic Carnitine Palmitoyl Transferase I Deficiency 12 53 59
Carnitine Palmitoyl Transferase 1a Deficiency 12 59 73
Carnitine Palmitoyl Transferase Ia Deficiency 12 53 59
Carnitine Palmitoyltransferase 1a Deficiency 24 53 75
Carnitine Palmitoyl Transferase 1 Deficiency 53 29 6
L-Cpt1 Deficiency 12 53 59
Cpt I Deficiency 57 12 25
Hepatic Carnitine Palmitoyltransferase 1 Deficiency 24 53
Carnitine Palmitoyltransferase Ia Deficiency 57 25
Cpt Deficiency, Hepatic, Type Ia 57 13
Cpt Deficiency, Hepatic, Type I 57 25
L-Cpti Deficiency 53 59
Liver Form of Carnitine Palmitoyltransferase Deficiency 25
Carnitine Palmitoyltransferase I, Liver 13
Hepatic Cpt Deficiency Type I 12
L-Cpt 1 Deficiency 53
Cpt 1a Deficiency 25
Cpt-I Deficiency 75
Hepatic Cpt1 53
Cpt1ad 75

Characteristics:

Orphanet epidemiological data:

59
carnitine palmitoyl transferase 1a deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset <30 months
precipitated by infection, fasting, or intercurrent illness


HPO:

32
carnitine palmitoyltransferase i deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Carnitine Palmitoyltransferase I Deficiency

NIH Rare Diseases : 53 Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) is an inherited metabolic condition that prevents the body from converting certain fats  (long-chain fatty acids) into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. Symptoms of this condition often appear early in life and include low blood sugar (hypoglycemia) and low levels of ketones, which are produced when the body breaks down fat for energy (hypoketotic hypoglycemia). This can lead to a greater risk for loss of consciousness or seizures. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, nervous system damage, and elevated levels of carnitine in the blood. CPT1A deficiency is caused by mutations in the CPT1A gene and is inherited in an autosomal recessive manner. Although there is no cure for CPT1A deficiency, symptoms can be managed using several strategies, such dietary changes and use of fat supplements.

MalaCards based summary : Carnitine Palmitoyltransferase I Deficiency, also known as cpt1a deficiency, is related to carnitine palmitoyltransferase i deficiency , muscle and hepatitis, and has symptoms including diarrhea, lethargy and seizures. An important gene associated with Carnitine Palmitoyltransferase I Deficiency is CPT1A (Carnitine Palmitoyltransferase 1A), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. Affiliated tissues include liver, kidney and skeletal muscle, and related phenotypes are seizures and muscular hypotonia

OMIM : 57 CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981) (255120)

UniProtKB/Swiss-Prot : 75 Carnitine palmitoyltransferase 1A deficiency: Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.

Genetics Home Reference : 25 Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.

Disease Ontology : 12 A lipid metabolism disorder characterized by autosomal recessive inheritance of impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia that has material basis in homozygous or compound heterozygous mutation in the CPT1A gene on chromosome 11q13.

Wikipedia : 76 Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from... more...

GeneReviews: NBK1527

Related Diseases for Carnitine Palmitoyltransferase I Deficiency

Diseases related to Carnitine Palmitoyltransferase I Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 carnitine palmitoyltransferase i deficiency , muscle 12.4
2 hepatitis 10.4
3 renal tubular acidosis 10.0
4 renal tubular acidosis, distal 10.0
5 visceral steatosis 9.3 CPT1A CPT1B
6 carnitine palmitoyltransferase ii deficiency, infantile 9.2 CPT1A CPT1B
7 body mass index quantitative trait locus 11 9.0 CPT1A CPT1B

Graphical network of the top 20 diseases related to Carnitine Palmitoyltransferase I Deficiency:



Diseases related to Carnitine Palmitoyltransferase I Deficiency

Symptoms & Phenotypes for Carnitine Palmitoyltransferase I Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
coma
lethargy
hypotonia
encephalopathy, recurrent

Cardiovascular Heart:
cardiomegaly
cardiac rhythm disturbances

Metabolic Features:
renal tubular acidosis
hypoketotic hypoglycemia

Muscle Soft Tissue:
muscle weakness is not a feature

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
diarrhea
poor feeding

Laboratory Abnormalities:
transient hyperlipidemia
elevated transaminases
no dicarboxylic aciduria
elevated creatine kinase
mild to moderate hyperammonemia
more
Prenatal Manifestations Maternal:
acute fatty liver in pregnancy (fetus with carnitine palmitoyltransferase i (cpt1) deficiency)
hellp syndrome


Clinical features from OMIM:

255120

Human phenotypes related to Carnitine Palmitoyltransferase I Deficiency:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
4 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
5 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
6 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
7 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
8 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
9 arrhythmia 59 32 Occasional (29-5%) HP:0011675
10 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
11 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
12 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
13 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
14 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
15 coma 59 32 frequent (33%) Frequent (79-30%) HP:0001259
16 hepatic failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001399
17 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
18 renal tubular acidosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001947
19 loss of consciousness 59 32 frequent (33%) Frequent (79-30%) HP:0007185
20 transient hyperlipidemia 59 32 frequent (33%) Frequent (79-30%) HP:0008279
21 feeding difficulties in infancy 32 HP:0008872
22 cardiomegaly 32 HP:0001640
23 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
24 elevated serum creatine phosphokinase 32 HP:0003236
25 hepatic steatosis 32 HP:0001397
26 diarrhea 32 HP:0002014
27 hyperammonemia 32 HP:0001987
28 generalized hypotonia 32 HP:0001290
29 hypoketotic hypoglycemia 32 HP:0001985
30 prenatal maternal abnormality 32 HP:0002686
31 recurrent encephalopathy 32 HP:0007335

UMLS symptoms related to Carnitine Palmitoyltransferase I Deficiency:


diarrhea, lethargy, seizures

Drugs & Therapeutics for Carnitine Palmitoyltransferase I Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metabolic Consequences of CPT-1 Deficiency Completed NCT00653666 Not Applicable

Search NIH Clinical Center for Carnitine Palmitoyltransferase I Deficiency

Genetic Tests for Carnitine Palmitoyltransferase I Deficiency

Genetic tests related to Carnitine Palmitoyltransferase I Deficiency:

# Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase I Deficiency 29 CPT1A
2 Carnitine Palmitoyl Transferase 1 Deficiency 29

Anatomical Context for Carnitine Palmitoyltransferase I Deficiency

MalaCards organs/tissues related to Carnitine Palmitoyltransferase I Deficiency:

41
Liver, Kidney, Skeletal Muscle

Publications for Carnitine Palmitoyltransferase I Deficiency

Articles related to Carnitine Palmitoyltransferase I Deficiency:

(show all 13)
# Title Authors Year
1
Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency. ( 17160614 )
2007
2
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. ( 16146704 )
2005
3
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. ( 15110323 )
2004
4
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. ( 15669684 )
2004
5
[Carnitine palmitoyltransferase I deficiency]. ( 12013979 )
2002
6
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency. ( 11757589 )
2001
7
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. ( 11568084 )
2001
8
Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile. ( 11286383 )
2001
9
Postoperative coma in a child with carnitine palmitoyltransferase I deficiency. ( 11226093 )
2001
10
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. ( 10625081 )
2000
11
Rationale for a conditional knockout mouse model to study carnitine palmitoyltransferase I deficiencies. ( 10709666 )
1999
12
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. ( 9691089 )
1998
13
Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. ( 7877875 )
1994

Variations for Carnitine Palmitoyltransferase I Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Carnitine Palmitoyltransferase I Deficiency:

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 CPT1A p.Arg123Cys VAR_020546 rs80356775
2 CPT1A p.Cys304Trp VAR_020548 rs80356789
3 CPT1A p.Thr314Ile VAR_020549 rs80356776
4 CPT1A p.Arg357Trp VAR_020550 rs80356777
5 CPT1A p.Glu360Gly VAR_020551 rs80356787
6 CPT1A p.Ala414Val VAR_020553 rs80356790
7 CPT1A p.Asp454Gly VAR_020554 rs80356778
8 CPT1A p.Pro479Leu VAR_020555 rs80356779
9 CPT1A p.Leu484Pro VAR_020556 rs80356793
10 CPT1A p.Tyr498Cys VAR_020557 rs80356791
11 CPT1A p.Gly709Glu VAR_020558 rs28936374
12 CPT1A p.Gly710Glu VAR_020559 rs80356780
13 CPT1A p.Arg316Gly VAR_046767 rs80356796
14 CPT1A p.Phe343Val VAR_046768 rs80356783
15 CPT1A p.Gly465Trp VAR_046769 rs80356784

ClinVar genetic disease variations for Carnitine Palmitoyltransferase I Deficiency:

6
(show top 50) (show all 123)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPT1A NM_001876.3(CPT1A): c.1361A> G (p.Asp454Gly) single nucleotide variant Pathogenic rs80356778 GRCh37 Chromosome 11, 68548205: 68548205
2 CPT1A NM_001876.3(CPT1A): c.1361A> G (p.Asp454Gly) single nucleotide variant Pathogenic rs80356778 GRCh38 Chromosome 11, 68780737: 68780737
3 CPT1A NM_001876.3(CPT1A): c.1079A> G (p.Glu360Gly) single nucleotide variant Pathogenic rs80356787 GRCh37 Chromosome 11, 68552367: 68552367
4 CPT1A NM_001876.3(CPT1A): c.1079A> G (p.Glu360Gly) single nucleotide variant Pathogenic rs80356787 GRCh38 Chromosome 11, 68784899: 68784899
5 CPT1A NM_001876.3(CPT1A): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs80356774 GRCh37 Chromosome 11, 68575090: 68575090
6 CPT1A NM_001876.3(CPT1A): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs80356774 GRCh38 Chromosome 11, 68807622: 68807622
7 CPT1A NG_011801.1: g.72149_72150delTT deletion Pathogenic GRCh38 Chromosome 11, 68774782: 68774783
8 CPT1A NG_011801.1: g.72149_72150delTT deletion Pathogenic GRCh37 Chromosome 11, 68542250: 68542251
9 CPT1A NM_001876.3(CPT1A): c.1241C> T (p.Ala414Val) single nucleotide variant Pathogenic rs80356790 GRCh37 Chromosome 11, 68549350: 68549350
10 CPT1A NM_001876.3(CPT1A): c.1241C> T (p.Ala414Val) single nucleotide variant Pathogenic rs80356790 GRCh38 Chromosome 11, 68781882: 68781882
11 CPT1A NM_001876.3(CPT1A): c.1493A> G (p.Tyr498Cys) single nucleotide variant Pathogenic rs80356791 GRCh37 Chromosome 11, 68542866: 68542866
12 CPT1A NM_001876.3(CPT1A): c.1493A> G (p.Tyr498Cys) single nucleotide variant Pathogenic rs80356791 GRCh38 Chromosome 11, 68775398: 68775398
13 CPT1A NM_001876.3(CPT1A): c.1876-1G> A (p.Val626_Glu676del) single nucleotide variant Likely pathogenic rs80356798 GRCh38 Chromosome 11, 68761688: 68761688
14 CPT1A NM_001876.3(CPT1A): c.1876-1G> A (p.Val626_Glu676del) single nucleotide variant Likely pathogenic rs80356798 GRCh37 Chromosome 11, 68529156: 68529156
15 CPT1A NM_001876.3(CPT1A): c.(?_1744)_2107del (p.(?)) deletion Pathogenic GRCh37 Chromosome 11, 68527728: 68536100
16 CPT1A NM_001876.3(CPT1A): c.(?_1744)_2107del (p.(?)) deletion Pathogenic GRCh38 Chromosome 11, 68760260: 68768632
17 CPT1A NM_001876.3(CPT1A): c.2126G> A (p.Gly709Glu) single nucleotide variant Pathogenic rs28936374 GRCh37 Chromosome 11, 68527709: 68527709
18 CPT1A NM_001876.3(CPT1A): c.2126G> A (p.Gly709Glu) single nucleotide variant Pathogenic rs28936374 GRCh38 Chromosome 11, 68760241: 68760241
19 CPT1A NM_001031847.2(CPT1A): c.948delG (p.Ile317Serfs) deletion Pathogenic rs80356800 GRCh37 Chromosome 11, 68560802: 68560802
20 CPT1A NM_001031847.2(CPT1A): c.948delG (p.Ile317Serfs) deletion Pathogenic rs80356800 GRCh38 Chromosome 11, 68793334: 68793334
21 CPT1A NM_001876.3(CPT1A): c.2129G> A (p.Gly710Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80356780 GRCh37 Chromosome 11, 68527706: 68527706
22 CPT1A NM_001876.3(CPT1A): c.2129G> A (p.Gly710Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80356780 GRCh38 Chromosome 11, 68760238: 68760238
23 NG_011801.1: g.73667+?_86672del deletion Pathogenic
24 CPT1A NM_001876.3(CPT1A): c.1027T> G (p.Phe343Val) single nucleotide variant Pathogenic rs80356783 GRCh37 Chromosome 11, 68552419: 68552419
25 CPT1A NM_001876.3(CPT1A): c.1027T> G (p.Phe343Val) single nucleotide variant Pathogenic rs80356783 GRCh38 Chromosome 11, 68784951: 68784951
26 CPT1A NM_001876.3(CPT1A): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs80356777 GRCh37 Chromosome 11, 68552377: 68552377
27 CPT1A NM_001876.3(CPT1A): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs80356777 GRCh38 Chromosome 11, 68784909: 68784909
28 CPT1A NM_001876.3(CPT1A): c.1339C> T (p.Arg447Ter) single nucleotide variant Pathogenic rs397515543 GRCh37 Chromosome 11, 68549252: 68549252
29 CPT1A NM_001876.3(CPT1A): c.1339C> T (p.Arg447Ter) single nucleotide variant Pathogenic rs397515543 GRCh38 Chromosome 11, 68781784: 68781784
30 CPT1A NM_001876.3(CPT1A): c.1393G> T (p.Gly465Trp) single nucleotide variant Pathogenic rs80356784 GRCh37 Chromosome 11, 68548173: 68548173
31 CPT1A NM_001876.3(CPT1A): c.1393G> T (p.Gly465Trp) single nucleotide variant Pathogenic rs80356784 GRCh38 Chromosome 11, 68780705: 68780705
32 CPT1A NM_001876.3(CPT1A): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs80356794 GRCh37 Chromosome 11, 68548141: 68548141
33 CPT1A NM_001876.3(CPT1A): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs80356794 GRCh38 Chromosome 11, 68780673: 68780673
34 CPT1A NM_001876.3(CPT1A): c.1436C> T (p.Pro479Leu) single nucleotide variant Pathogenic rs80356779 GRCh37 Chromosome 11, 68548130: 68548130
35 CPT1A NM_001876.3(CPT1A): c.1436C> T (p.Pro479Leu) single nucleotide variant Pathogenic rs80356779 GRCh38 Chromosome 11, 68780662: 68780662
36 CPT1A NM_001876.3(CPT1A): c.1451T> C (p.Leu484Pro) single nucleotide variant Pathogenic rs80356793 GRCh37 Chromosome 11, 68548115: 68548115
37 CPT1A NM_001876.3(CPT1A): c.1451T> C (p.Leu484Pro) single nucleotide variant Pathogenic rs80356793 GRCh38 Chromosome 11, 68780647: 68780647
38 CPT1A NM_001876.3(CPT1A): c.1494T> A (p.Tyr498Ter) single nucleotide variant Pathogenic rs80356795 GRCh37 Chromosome 11, 68542865: 68542865
39 CPT1A NM_001876.3(CPT1A): c.1494T> A (p.Tyr498Ter) single nucleotide variant Pathogenic rs80356795 GRCh38 Chromosome 11, 68775397: 68775397
40 CPT1A NM_001876.3(CPT1A): c.1494T> G (p.Tyr498Ter) single nucleotide variant Pathogenic rs80356795 GRCh37 Chromosome 11, 68542865: 68542865
41 CPT1A NM_001876.3(CPT1A): c.1494T> G (p.Tyr498Ter) single nucleotide variant Pathogenic rs80356795 GRCh38 Chromosome 11, 68775397: 68775397
42 CPT1A NM_001876.3(CPT1A): c.1600delC (p.Leu534Terfs) deletion Pathogenic rs80356801 GRCh37 Chromosome 11, 68540873: 68540873
43 CPT1A NM_001876.3(CPT1A): c.1600delC (p.Leu534Terfs) deletion Pathogenic rs80356801 GRCh38 Chromosome 11, 68773405: 68773405
44 CPT1A NM_001876.3(CPT1A): c.1737C> A (p.Tyr579Ter) single nucleotide variant Pathogenic rs80356785 GRCh37 Chromosome 11, 68540736: 68540736
45 CPT1A NM_001876.3(CPT1A): c.1737C> A (p.Tyr579Ter) single nucleotide variant Pathogenic rs80356785 GRCh38 Chromosome 11, 68773268: 68773268
46 CPT1A NM_001876.3(CPT1A): c.2027_2028+2delAAGT deletion Pathogenic rs80356799 GRCh37 Chromosome 11, 68529001: 68529004
47 CPT1A NM_001876.3(CPT1A): c.2027_2028+2delAAGT deletion Pathogenic rs80356799 GRCh38 Chromosome 11, 68761533: 68761536
48 CPT1A NM_001876.3(CPT1A): c.2156G> A (p.Gly719Asp) single nucleotide variant Pathogenic rs397515544 GRCh37 Chromosome 11, 68527116: 68527116
49 CPT1A NM_001876.3(CPT1A): c.2156G> A (p.Gly719Asp) single nucleotide variant Pathogenic rs397515544 GRCh38 Chromosome 11, 68759648: 68759648
50 CPT1A NM_001876.3(CPT1A): c.478C> T (p.Arg160Ter) single nucleotide variant Pathogenic rs80356782 GRCh37 Chromosome 11, 68571545: 68571545

Expression for Carnitine Palmitoyltransferase I Deficiency

Search GEO for disease gene expression data for Carnitine Palmitoyltransferase I Deficiency.

Pathways for Carnitine Palmitoyltransferase I Deficiency

Pathways related to Carnitine Palmitoyltransferase I Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

Pathways related to Carnitine Palmitoyltransferase I Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 CPT1A CPT1B
2
Show member pathways
11.93 CPT1A CPT1B
3
Show member pathways
11.73 CPT1A CPT1B
4
Show member pathways
11.51 CPT1A CPT1B
5 11.47 CPT1A CPT1B
6
Show member pathways
11.4 CPT1A CPT1B
7 11.26 CPT1A CPT1B
8 11.21 CPT1A CPT1B
9
Show member pathways
11.14 CPT1A CPT1B
10
Show member pathways
10.98 CPT1A CPT1B
11 10.87 CPT1A CPT1B
12 10.6 CPT1A CPT1B
13 9.66 CPT1A CPT1B

GO Terms for Carnitine Palmitoyltransferase I Deficiency

Cellular components related to Carnitine Palmitoyltransferase I Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.96 CPT1A CPT1B
2 mitochondrial outer membrane GO:0005741 8.62 CPT1A CPT1B

Biological processes related to Carnitine Palmitoyltransferase I Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.26 CPT1A CPT1B
2 fatty acid metabolic process GO:0006631 9.16 CPT1A CPT1B
3 fatty acid beta-oxidation GO:0006635 8.96 CPT1A CPT1B
4 carnitine shuttle GO:0006853 8.62 CPT1A CPT1B

Molecular functions related to Carnitine Palmitoyltransferase I Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 8.96 CPT1A CPT1B
2 carnitine O-palmitoyltransferase activity GO:0004095 8.62 CPT1A CPT1B

Sources for Carnitine Palmitoyltransferase I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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