MCID: 3HY007
MIFTS: 41

3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

MalaCards integrated aliases for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency:

Name: 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 57 53 25 59 75 37
Hydroxymethylglutaric Aciduria 57 76 53 25 59 75 73
Hmg-Coa Lyase Deficiency 57 76 53 25 59 75 13
Deficiency of Hydroxymethylglutaryl-Coa Lyase 25 29 6
3-Hydroxy-3-Methylglutaric Aciduria 53 59
Hmg Coa Lyase Deficiency 53 73
Hmgcl Deficiency 57 75
Hl Deficiency 57 75
Hmgcld 57 75
3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency 25
3-Hydroxy 3-Methyl Glutaryl-Coa Lyase Deficiency 76
3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase 13
Hydroxymethylglutaryl-Coa Lyase Deficiency 40
3-Oh 3-Methyl Glutaric Aciduria 25
Hydroxymethylglutaricaciduria 75
Defect in Leucine Metabolism 53
3-Oh 3-Ch3 Glutaric Aciduria 25
Hepatic Lipase Deficiency 73
3hmg 25
Hmg 25

Characteristics:

Orphanet epidemiological data:

59
3-hydroxy-3-methylglutaric aciduria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Portugal),<1/1000000 (United States),<1/1000000 (Taiwan, Province of China); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
triggers for acute decompensation include infections, vaccinations, and dietary changes
sensitivity to dietary leucine
variable features present during metabolic decompensation
long-term complications may include mental retardation, seizures, hypotonia, and spasticity


HPO:

32
3-hydroxy-3-methylglutaryl-coa lyase deficiency:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 246450
Orphanet 59 ORPHA20
UMLS via Orphanet 74 C1533587 C0268601
ICD10 via Orphanet 34 E71.1
MedGen 42 C0268601
MeSH 44 D000592
KEGG 37 H00179

Summaries for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

NIH Rare Diseases : 53 HMG CoA lyase deficiency is an inherited disorder in which the body cannot process a protein called leucine or make ketones. Ketones are used for energy during periods of fasting. The signs and symptoms of condition usually appear within the first year of life and include episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). During an episode, blood sugar levels can become dangerously low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If untreated, the disorder can lead to breathing problems, convulsions, coma, and death. Episodes are often triggered by an infection, fasting, strenuous exercise, or other types of stress. Mutations in the HMGCL gene cause HMG-CoA lyase deficiency, and this condition is inherited in an autosomal recessive pattern. Treatment usually involves a team of specialists including a metabolics and/or genetics specialist and a dietician and may include avoidance of fasting, a low leucine diet, and supplementation with L-carnitine.

MalaCards based summary : 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency, also known as hydroxymethylglutaric aciduria, is related to hmg coa synthetase deficiency and 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency, and has symptoms including angina pectoris An important gene associated with 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency is HMGCL (3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Butanoate metabolism. Affiliated tissues include liver, brain and cortex, and related phenotypes are hepatomegaly and fever

OMIM : 57 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by Gibson et al., 1988). (246450)

UniProtKB/Swiss-Prot : 75 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.

Genetics Home Reference : 25 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are compounds that are used for energy during periods without food (fasting).

Wikipedia : 76 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency also referred to as HMG-CoA lyase deficiency or... more...

Related Diseases for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Diseases related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 hmg coa synthetase deficiency 12.0
2 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency 11.9
3 hepatic lipase deficiency 11.4
4 cerebrotendinous xanthomatosis 11.2
5 necrotizing autoimmune myopathy 11.1
6 cerebritis 10.3
7 reye syndrome 10.2
8 stroke, ischemic 10.2
9 pancreatitis 10.2
10 retinitis pigmentosa 10.1
11 leber congenital amaurosis 4 10.1
12 retinitis 10.1
13 dilated cardiomyopathy 10.1
14 endocardial fibroelastosis 10.1
15 3-methylglutaconic aciduria, type i 9.7
16 3-methylglutaconic aciduria 9.7
17 type i 9.7

Graphical network of the top 20 diseases related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency:



Diseases related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Symptoms & Phenotypes for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
myoclonus
abnormal eeg
coma (uncommon)
more
Abdomen Liver:
hepatomegaly

Hematology:
anemia
decreased prothrombin time

Neurologic Behavioral Psychiatric Manifestations:
somnolence
apathy/lethargy

Respiratory:
tachydyspnea
kussmal breathing

Skin Nails Hair Skin:
paleness

Muscle Soft Tissue:
muscular hypotonia

Laboratory Abnormalities:
hypoglycemia
hyperuricemia
hyperammonemia
acidosis
increased anion gap
more
Metabolic Features:
metabolic acidosis

Head And Neck Head:
microcephaly (in some patients)

Abdomen Gastrointestinal:
recurrent vomiting
refusal of nutrition


Clinical features from OMIM:

246450

Human phenotypes related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 fever 32 HP:0001945
3 hypoglycemia 32 HP:0001943
4 coma 32 HP:0001259
5 hyperammonemia 32 HP:0001987
6 metabolic acidosis 32 HP:0001942
7 excessive daytime somnolence 32 HP:0001262
8 decreased plasma carnitine 32 HP:0003234
9 glutaric aciduria 32 HP:0003150
10 3-methylglutaric aciduria 32 HP:0003344
11 increased level of 3-hydroxy-3-methylglutaric acid in urine 32 HP:0410051
12 increased level of hippuric acid in urine 32 HP:0410066

UMLS symptoms related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency:


angina pectoris

Drugs & Therapeutics for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Search Clinical Trials , NIH Clinical Center for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Genetic Tests for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Genetic tests related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Hydroxymethylglutaryl-Coa Lyase 29 HMGCL

Anatomical Context for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

MalaCards organs/tissues related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency:

41
Liver, Brain, Cortex

Publications for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Articles related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency:

(show all 19)
# Title Authors Year
1
Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. ( 28220407 )
2017
2
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. ( 26997609 )
2016
3
Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. ( 26041581 )
2015
4
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. ( 25872961 )
2015
5
In vivo experimental evidence that the major metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency induce oxidative stress in striatum of developing rats: a potential pathophysiological mechanism of striatal damage in this disorder. ( 23611578 )
2013
6
Redox homeostasis is compromised in vivo by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in rat cerebral cortex and liver. ( 24127998 )
2013
7
Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency as compared to liver. ( 19460629 )
2009
8
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. ( 17173698 )
2006
9
Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria. ( 16330550 )
2006
10
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. ( 15505778 )
2004
11
Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. ( 11032339 )
2000
12
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association. ( 9700611 )
1998
13
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. ( 9163320 )
1997
14
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency. ( 7479590 )
1995
15
Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. ( 7807935 )
1994
16
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction. ( 8127066 )
1993
17
GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. ( 1377861 )
1992
18
Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography. ( 2225461 )
1990
19
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases. ( 2302772 )
1990

Variations for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency:

75 (show all 19)
# Symbol AA change Variation ID SNP ID
1 HMGCL p.Arg41Gln VAR_003744 rs121964997
2 HMGCL p.Asp42Glu VAR_003745
3 HMGCL p.Asp42Gly VAR_003746
4 HMGCL p.Asp42His VAR_003747
5 HMGCL p.Val70Leu VAR_003748 rs121964996
6 HMGCL p.His233Arg VAR_003749 rs727503963
7 HMGCL p.Glu279Lys VAR_014202 rs121964998
8 HMGCL p.Glu37Lys VAR_058440
9 HMGCL p.Lys48Asn VAR_058441
10 HMGCL p.Ser75Arg VAR_058442
11 HMGCL p.Ser142Phe VAR_058443
12 HMGCL p.Cys174Tyr VAR_058444 rs765475941
13 HMGCL p.Phe192Ser VAR_058445
14 HMGCL p.Ile200Phe VAR_058446
15 HMGCL p.Ser201Tyr VAR_058447 rs760106433
16 HMGCL p.Gly203Glu VAR_058448
17 HMGCL p.Asp204Asn VAR_058449
18 HMGCL p.Leu263Pro VAR_058450
19 HMGCL p.Arg165Gln VAR_065453 rs199587895

ClinVar genetic disease variations for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency:

6
(show top 50) (show all 59)
# Gene Variation Type Significance SNP ID Assembly Location
1 HMGCL HMGCL, 930-BP DEL, EX3-6DEL deletion Pathogenic
2 HMGCL NM_000191.2(HMGCL): c.206_207delCT (p.Ser69Cysfs) deletion Pathogenic rs752137615 GRCh37 Chromosome 1, 24144011: 24144012
3 HMGCL NM_000191.2(HMGCL): c.206_207delCT (p.Ser69Cysfs) deletion Pathogenic rs752137615 GRCh38 Chromosome 1, 23817521: 23817522
4 HMGCL NM_000191.2(HMGCL): c.208G> C (p.Val70Leu) single nucleotide variant Pathogenic rs121964996 GRCh37 Chromosome 1, 24144010: 24144010
5 HMGCL NM_000191.2(HMGCL): c.208G> C (p.Val70Leu) single nucleotide variant Pathogenic rs121964996 GRCh38 Chromosome 1, 23817520: 23817520
6 HMGCL NM_000191.2(HMGCL): c.122G> A (p.Arg41Gln) single nucleotide variant Pathogenic rs121964997 GRCh37 Chromosome 1, 24147022: 24147022
7 HMGCL NM_000191.2(HMGCL): c.122G> A (p.Arg41Gln) single nucleotide variant Pathogenic rs121964997 GRCh38 Chromosome 1, 23820532: 23820532
8 HMGCL NM_000191.2(HMGCL): c.835G> A (p.Glu279Lys) single nucleotide variant Pathogenic rs121964998 GRCh37 Chromosome 1, 24130931: 24130931
9 HMGCL NM_000191.2(HMGCL): c.835G> A (p.Glu279Lys) single nucleotide variant Pathogenic rs121964998 GRCh38 Chromosome 1, 23804441: 23804441
10 HMGCL NM_000191.2(HMGCL): c.914_915delTT (p.Phe305Tyrfs) deletion Pathogenic rs786205431 GRCh37 Chromosome 1, 24129016: 24129017
11 HMGCL NM_000191.2(HMGCL): c.914_915delTT (p.Phe305Tyrfs) deletion Pathogenic rs786205431 GRCh38 Chromosome 1, 23802526: 23802527
12 HMGCL NM_000191.2(HMGCL): c.109G> T (p.Glu37Ter) single nucleotide variant Pathogenic rs763494292 GRCh37 Chromosome 1, 24147035: 24147035
13 HMGCL NM_000191.2(HMGCL): c.109G> T (p.Glu37Ter) single nucleotide variant Pathogenic rs763494292 GRCh38 Chromosome 1, 23820545: 23820545
14 HMGCL NM_000191.2(HMGCL): c.*414G> A single nucleotide variant Uncertain significance rs886046310 GRCh38 Chromosome 1, 23802049: 23802049
15 HMGCL NM_000191.2(HMGCL): c.*414G> A single nucleotide variant Uncertain significance rs886046310 GRCh37 Chromosome 1, 24128539: 24128539
16 HMGCL NM_000191.2(HMGCL): c.*289G> T single nucleotide variant Uncertain significance rs369514739 GRCh38 Chromosome 1, 23802174: 23802174
17 HMGCL NM_000191.2(HMGCL): c.*289G> T single nucleotide variant Uncertain significance rs369514739 GRCh37 Chromosome 1, 24128664: 24128664
18 HMGCL NM_000191.2(HMGCL): c.254T> C (p.Met85Thr) single nucleotide variant Uncertain significance rs886046314 GRCh38 Chromosome 1, 23816769: 23816769
19 HMGCL NM_000191.2(HMGCL): c.254T> C (p.Met85Thr) single nucleotide variant Uncertain significance rs886046314 GRCh37 Chromosome 1, 24143259: 24143259
20 HMGCL NM_000191.2(HMGCL): c.*290T> C single nucleotide variant Uncertain significance rs886046311 GRCh38 Chromosome 1, 23802173: 23802173
21 HMGCL NM_000191.2(HMGCL): c.*290T> C single nucleotide variant Uncertain significance rs886046311 GRCh37 Chromosome 1, 24128663: 24128663
22 HMGCL NM_000191.2(HMGCL): c.*104G> A single nucleotide variant Uncertain significance rs552915017 GRCh38 Chromosome 1, 23802359: 23802359
23 HMGCL NM_000191.2(HMGCL): c.*104G> A single nucleotide variant Uncertain significance rs552915017 GRCh37 Chromosome 1, 24128849: 24128849
24 HMGCL NM_000191.2(HMGCL): c.828G> A (p.Leu276=) single nucleotide variant Uncertain significance rs771024022 GRCh38 Chromosome 1, 23804448: 23804448
25 HMGCL NM_000191.2(HMGCL): c.828G> A (p.Leu276=) single nucleotide variant Uncertain significance rs771024022 GRCh37 Chromosome 1, 24130938: 24130938
26 HMGCL NM_000191.2(HMGCL): c.594C> T (p.Tyr198=) single nucleotide variant Uncertain significance rs139799938 GRCh38 Chromosome 1, 23808291: 23808291
27 HMGCL NM_000191.2(HMGCL): c.594C> T (p.Tyr198=) single nucleotide variant Uncertain significance rs139799938 GRCh37 Chromosome 1, 24134781: 24134781
28 HMGCL NM_000191.2(HMGCL): c.497+3G> A single nucleotide variant Uncertain significance rs763178392 GRCh38 Chromosome 1, 23814187: 23814187
29 HMGCL NM_000191.2(HMGCL): c.497+3G> A single nucleotide variant Uncertain significance rs763178392 GRCh37 Chromosome 1, 24140677: 24140677
30 GALE; HMGCL NM_000191.2(HMGCL): c.*486G> A single nucleotide variant Benign rs11714 GRCh38 Chromosome 1, 23801977: 23801977
31 GALE; HMGCL NM_000191.2(HMGCL): c.*486G> A single nucleotide variant Benign rs11714 GRCh37 Chromosome 1, 24128467: 24128467
32 HMGCL NM_000191.2(HMGCL): c.*194C> G single nucleotide variant Uncertain significance rs192071003 GRCh38 Chromosome 1, 23802269: 23802269
33 HMGCL NM_000191.2(HMGCL): c.*194C> G single nucleotide variant Uncertain significance rs192071003 GRCh37 Chromosome 1, 24128759: 24128759
34 HMGCL NM_000191.2(HMGCL): c.734C> T (p.Thr245Ile) single nucleotide variant Uncertain significance rs761468576 GRCh38 Chromosome 1, 23808151: 23808151
35 HMGCL NM_000191.2(HMGCL): c.734C> T (p.Thr245Ile) single nucleotide variant Uncertain significance rs761468576 GRCh37 Chromosome 1, 24134641: 24134641
36 HMGCL NM_000191.2(HMGCL): c.708C> T (p.Asp236=) single nucleotide variant Uncertain significance rs886046312 GRCh38 Chromosome 1, 23808177: 23808177
37 HMGCL NM_000191.2(HMGCL): c.708C> T (p.Asp236=) single nucleotide variant Uncertain significance rs886046312 GRCh37 Chromosome 1, 24134667: 24134667
38 HMGCL NM_000191.2(HMGCL): c.630C> T (p.Thr210=) single nucleotide variant Uncertain significance rs886046313 GRCh38 Chromosome 1, 23808255: 23808255
39 HMGCL NM_000191.2(HMGCL): c.630C> T (p.Thr210=) single nucleotide variant Uncertain significance rs886046313 GRCh37 Chromosome 1, 24134745: 24134745
40 GALE; HMGCL NM_000403.3(GALE): c.-91C> T single nucleotide variant Likely benign rs113324056 GRCh38 Chromosome 1, 23800401: 23800401
41 GALE; HMGCL NM_000403.3(GALE): c.-91C> T single nucleotide variant Likely benign rs113324056 GRCh37 Chromosome 1, 24126891: 24126891
42 HMGCL NM_000191.2(HMGCL): c.750+14T> A single nucleotide variant Uncertain significance rs778868742 GRCh38 Chromosome 1, 23808121: 23808121
43 HMGCL NM_000191.2(HMGCL): c.750+14T> A single nucleotide variant Uncertain significance rs778868742 GRCh37 Chromosome 1, 24134611: 24134611
44 HMGCL NM_000191.2(HMGCL): c.48G> A (p.Ala16=) single nucleotide variant Benign/Likely benign rs115611440 GRCh38 Chromosome 1, 23825368: 23825368
45 HMGCL NM_000191.2(HMGCL): c.48G> A (p.Ala16=) single nucleotide variant Benign/Likely benign rs115611440 GRCh37 Chromosome 1, 24151858: 24151858
46 HMGCL NM_000191.2(HMGCL): c.-41G> C single nucleotide variant Uncertain significance rs886046315 GRCh38 Chromosome 1, 23825456: 23825456
47 HMGCL NM_000191.2(HMGCL): c.-41G> C single nucleotide variant Uncertain significance rs886046315 GRCh37 Chromosome 1, 24151946: 24151946
48 HMGCL NM_000191.2(HMGCL): c.-59A> C single nucleotide variant Likely benign rs188188846 GRCh37 Chromosome 1, 24151964: 24151964
49 HMGCL NM_000191.2(HMGCL): c.-59A> C single nucleotide variant Likely benign rs188188846 GRCh38 Chromosome 1, 23825474: 23825474
50 HMGCL NM_000191.2(HMGCL): c.393A> G (p.Ser131=) single nucleotide variant Benign/Likely benign rs56218308 GRCh37 Chromosome 1, 24140784: 24140784

Expression for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Search GEO for disease gene expression data for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency.

Pathways for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Pathways related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280
2 Butanoate metabolism hsa00650

GO Terms for 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency

Cellular components related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.16 BDH1 HMGCL
2 mitochondrial inner membrane GO:0005743 8.96 BDH1 HMGCL
3 mitochondrial matrix GO:0005759 8.62 BDH1 HMGCL

Biological processes related to 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ketone body biosynthetic process GO:0046951 8.62 BDH1 HMGCL

Sources for 3-Hydroxy-3-Methylglutaryl-Coa Lyase 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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