Human Metabolome Database: Showing metabocard for 3-Hydroxymethylglutaric acid (HMDB0000355)

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Identification Taxonomy Ontology Physical properties Spectra Biological properties Concentrations Links References enzymes (1) Show 1 protein XML

enzymes (1) Show 1 protein

Record Information

Version

4.0

Status

Detected and Quantified

Creation Date

2005-11-16 15:48:42 UTC

Update Date

2020-02-27 20:29:55 UTC

HMDB ID

HMDB0000355

Secondary Accession Numbers

HMDB00355
HMDB0059737
HMDB59737

Metabolite Identification

Common Name

3-Hydroxymethylglutaric acid

Description

3-Hydroxymethylglutaric acid is an "off-product" intermediate in the leucine degradation process. It is produced by defective or inefficient versions of 3-hydroxy-3-methylglutaryl-CoA lyase, an enzyme that normally catalyzes the conversion of 3-hydroxy-3-methylglutaryl-CoA to acetyl-CoA and acetoacetate. If this enzyme is defective, 3-hydroxy-3-methylglutaryl-CoA will accumulate in the mitochondria. Increased concentrations of 3-hydroxy-3-methylglutaryl-CoA can lead to a disruption of the esterified CoA:free CoA ratio and ultimately to mitochondrial toxicity. Detoxification of these CoA end products occurs via the transfer of the 3-hydroxymethylglutaryl moiety to carnitine, forming 3-hydroxymethylglutaric-carnitine, which is then transferred across the inner mitochondrial membrane where 3-hydroxymethylglutaric acid is released as the free acid. 3-Hydroxymethylglutaric acid has been found to accumulate in the urine of patients affected by 3-Hydroxy-3-methylglutaric aciduria, a rare inborn error of metabolism (OMIM: 246450 ). 3-Hydroxy-3-methylglutaric aciduria is caused by significantly reduced enzyme activity of the intramitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (EC 4.1.3.4), the enzyme that catalyzes the final step of leucine degradation. This enzyme also plays a key role in ketone body formation. The profile of urinary organic acids for individuals with 3-hydroxy-3-methylglutaric aciduria is different from that of the other identified defects of leucine degradation, such as maple syrup urine disease (OMIM: 248600 ), isovaleric acidemia (OMIM: 243500 ), and methylcrotonylglycinemia (OMIM: 210200 ). The urinary organic acid profile of 3-hydroxy-3-methylglutaric aciduria includes elevated concentrations of 3-hydroxy-3-isovaleric, 3-hydroxy-3-methylglutaric, 3-methylglutaconic, and 3-methylglutaric acids (PMID: 10916782 , 9658458 , 3063529 ). Clinical manifestations of 3-hydroxy-3-methylglutaric aciduria include hepatomegaly, lethargy, coma, and apnea. Biochemically, there is a characteristic absence of ketosis with hypoglycemia, acidosis, hypertransaminasemia, and variable hyperammonemia. Therefore, when present in sufficiently high concentrations, 3-hydroxymethylglutaric acid can act as an acidogen and a metabotoxin. An acidogen is an acidic compound that induces acidosis, which has multiple adverse effects on many organ systems. A metabotoxin is an endogenously produced metabolite that causes adverse health effects at chronically high levels. As noted above, chronically high levels of 3-hydroxymethylglutaric acid are associated with the inborn error of metabolism 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. 3-Hydroxymethylglutaric acid is an organic acid. Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis. Acidosis typically occurs when arterial pH falls below 7.35. In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These can progress to heart, liver, and kidney abnormalities, seizures, coma, and possibly death. These are also the characteristic symptoms of the untreated IEMs mentioned above. Many affected children with organic acidemias experience intellectual disability or delayed development. In adults, acidosis or acidemia is characterized by headaches, confusion, feeling tired, tremors, sleepiness, and seizures.

Structure

MOL SDF PDB SMILES InChI

Synonyms

Value	Source
(S)-3-Hydroxy-3-methylglutaric acid	ChEBI
(S)-Meglutol	ChEBI
3-HYDROXY-3-methyl-glutarIC ACID	ChEBI
3-Hydroxy-3-methylpentanedioic acid	ChEBI
beta-Hydroxy-beta-methylglutaric acid	ChEBI
Dicrotalic acid	ChEBI
Meglutol	ChEBI
Meglutolum	ChEBI
3-Hydorxy-3-methylglutaric acid	Kegg
(S)-3-Hydroxy-3-methylglutarate	Generator
3-HYDROXY-3-methyl-glutarate	Generator
3-Hydroxy-3-methylpentanedioate	Generator
b-Hydroxy-b-methylglutarate	Generator
b-Hydroxy-b-methylglutaric acid	Generator
beta-Hydroxy-beta-methylglutarate	Generator
Β-hydroxy-β-methylglutarate	Generator
Β-hydroxy-β-methylglutaric acid	Generator
Dicrotalate	Generator
3-Hydorxy-3-methylglutarate	Generator
3-Hydroxymethylglutarate	Generator
3-Hydroxy-3-methylglutarate	HMDB
3-Hydroxy-3-methylglutaric acid	HMDB
3-Methyl-3-hydroxyglutarate	HMDB
3-Methyl-3-hydroxyglutaric acid	HMDB
CB 337	HMDB
3 Hydroxy 3 methylpentanedioic acid	HMDB
Acid, 3-hydroxy-3-methylglutaric	HMDB
Acid, 3-hydroxy-3-methylpentanedioic	HMDB
beta Hydroxy beta methylglutarate	HMDB
3 Hydroxy 3 methylglutaric acid	HMDB
3-Methyl-3-hydroxypentanedioate	HMDB
3-Methyl-3-hydroxypentanedioic acid	HMDB
HMG	HMDB
HMGA	HMDB
Lipoglutaren	HMDB
Medroglutarate	HMDB
Medroglutaric acid	HMDB

Chemical Formula

C₆H₁₀O₅

Average Molecular Weight

162.1406

Monoisotopic Molecular Weight

162.05282343

IUPAC Name

3-hydroxy-3-methylpentanedioic acid

Traditional Name

meglutol

CAS Registry Number

503-49-1

SMILES

CC(O)(CC(O)=O)CC(O)=O

InChI Identifier

InChI=1S/C6H10O5/c1-6(11,2-4(7)8)3-5(9)10/h11H,2-3H2,1H3,(H,7,8)(H,9,10)

InChI Key

NPOAOTPXWNWTSH-UHFFFAOYSA-N

Chemical Taxonomy

Description

belongs to the class of organic compounds known as hydroxy fatty acids. These are fatty acids in which the chain bears a hydroxyl group.

Kingdom

Organic compounds

Super Class

Lipids and lipid-like molecules

Class

Fatty Acyls

Sub Class

Fatty acids and conjugates

Direct Parent

Hydroxy fatty acids

Alternative Parents

Substituents

Methyl-branched fatty acid
Short-chain hydroxy acid
Hydroxy fatty acid
Branched fatty acid
Dicarboxylic acid or derivatives
Tertiary alcohol
Carboxylic acid
Carboxylic acid derivative
Organic oxygen compound
Organic oxide
Hydrocarbon derivative
Organooxygen compound
Carbonyl group
Alcohol
Aliphatic acyclic compound

Molecular Framework

Aliphatic acyclic compounds

External Descriptors

tertiary alcohol (CHEBI:16831 )
dicarboxylic acid (CHEBI:16831 )
3-hydroxy carboxylic acid (CHEBI:16831 )

Ontology

Disposition

Route of exposure:

Enteral:

Ingestion

Source:

Biological:

Biological location:

Tissue and substructures:

Placenta

Subcellular:

Biofluid and excreta:

Process

Naturally occurring process:

Biological process:

Biochemical process:

Biochemical pathway:

Lipid metabolism pathway

Chemical reaction:

Lipid peroxidation

Role

Indirect biological role:

Biological role:

Industrial application:

Pharmaceutical industry:

Pharmaceutical

Physical Properties

State

Solid

Experimental Properties

Property	Value	Reference
Melting Point	105 °C	Not Available
Boiling Point	Not Available	Not Available
Water Solubility	Not Available	Not Available
LogP	Not Available	Not Available

Predicted Properties

Property	Value	Source
Water Solubility	275 g/L	ALOGPS
logP	-0.88	ALOGPS
logP	-0.75	ChemAxon
logS	0.23	ALOGPS
pKa (Strongest Acidic)	3.68	ChemAxon
pKa (Strongest Basic)	-3	ChemAxon
Physiological Charge	-2	ChemAxon
Hydrogen Acceptor Count	5	ChemAxon
Hydrogen Donor Count	3	ChemAxon
Polar Surface Area	94.83 Å²	ChemAxon
Rotatable Bond Count	4	ChemAxon
Refractivity	34.14 m³·mol⁻¹	ChemAxon
Polarizability	14.55 Å³	ChemAxon
Number of Rings	0	ChemAxon
Bioavailability	Yes	ChemAxon
Rule of Five	Yes	ChemAxon
Ghose Filter	No	ChemAxon
Veber's Rule	No	ChemAxon
MDDR-like Rule	No	ChemAxon

Spectra

Spectrum Type	Description	Splash Key	View
GC-MS	GC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized)	splash10-0002-0930000000-67cdb23f1a51498bb80d	Spectrum
GC-MS	GC-MS Spectrum - GC-MS (3 TMS)	splash10-05nb-2950000000-10da019551eceff729ec	Spectrum
GC-MS	GC-MS Spectrum - EI-B (Non-derivatized)	splash10-0002-0960000000-75a1f0bc3ffb60117676	Spectrum
GC-MS	GC-MS Spectrum - GC-EI-TOF (Non-derivatized)	splash10-0002-0930000000-67cdb23f1a51498bb80d	Spectrum
GC-MS	GC-MS Spectrum - GC-MS (Non-derivatized)	splash10-05nb-2950000000-10da019551eceff729ec	Spectrum
GC-MS	GC-MS Spectrum - GC-EI-TOF (Non-derivatized)	splash10-0002-0920000000-77008c8c7fb6eb798e79	Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positive	splash10-0udi-4900000000-ae0329f185525bab6028	Spectrum
Predicted GC-MS	Predicted GC-MS Spectrum - GC-MS (3 TMS) - 70eV, Positive	splash10-0079-9253000000-af0bf7551c9147193ed4	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - Quattro_QQQ 10V, Positive (Annotated)	splash10-05fr-2900000000-d5b3d7ccc3617f392a63	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - Quattro_QQQ 25V, Positive (Annotated)	splash10-004i-9800000000-1a510972071bf02a23f7	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - Quattro_QQQ 40V, Positive (Annotated)	splash10-0kdi-9300000000-6afee652d0eb18e589c3	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 10V, Negative	splash10-03di-0900000000-ae679b03ae8cdbc1cc40	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 20V, Negative	splash10-0002-9300000000-8d7565d3b9cbed5d13ac	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 30V, Negative	splash10-0a4i-9000000000-d06ad8ce44567793a49d	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 40V, Negative	splash10-0a4i-9000000000-f3c4c2c0cb3ff49db482	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 50V, Negative	splash10-0a4i-9000000000-98c0337e0bebe4fefe6c	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QTOF (UPLC Q-Tof Premier, Waters) , Positive	splash10-01qa-2900000000-182405b2867309ab7df8	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QTOF (UPLC Q-Tof Premier, Waters) , Negative	splash10-03dj-5900000000-d9ffa79e6b62296f2626	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ , negative	splash10-03di-0900000000-2847ca367167b7cf107b	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ , negative	splash10-0002-9300000000-f9ab44912911fd1e9ec7	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ , negative	splash10-0a4i-9000000000-589bf77ae5f575911b64	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ , negative	splash10-0a4i-9000000000-f3c4c2c0cb3ff49db482	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QQ , negative	splash10-0a4i-9000000000-98c0337e0bebe4fefe6c	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QTOF , negative	splash10-03dj-5900000000-d9ffa79e6b62296f2626	Spectrum
LC-MS/MS	LC-MS/MS Spectrum - LC-ESI-QTOF , positive	splash10-01qa-2900000000-182405b2867309ab7df8	Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 10V, Positive	splash10-0002-0900000000-a3631689983e6d6a3be7	Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 20V, Positive	splash10-002b-2900000000-54e16eaede819dea2bdc	Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 40V, Positive	splash10-000i-9600000000-31a4e319505eebd3d1d1	Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 10V, Negative	splash10-03xr-2900000000-405383db70ec0564b916	Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 20V, Negative	splash10-07bg-5900000000-dfc057320722ae1d926c	Spectrum
Predicted LC-MS/MS	Predicted LC-MS/MS Spectrum - 40V, Negative	splash10-0a4m-9300000000-e5a720c14cbc5de82d4d	Spectrum
1D NMR	1H NMR Spectrum	Not Available	Spectrum
2D NMR	[1H,13C] 2D NMR Spectrum	Not Available	Spectrum

Biological Properties

Cellular Locations

Cytoplasm (predicted from logP)

Biospecimen Locations

Feces
Saliva
Urine

Tissue Locations

Placenta

Pathways

Not Available

Name	SMPDB/Pathwhiz	KEGG

Normal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Feces	Detected but not Quantified		Adult (>18 years old)	Both	Normal	25037050	details
Feces	Detected but not Quantified		Adult (>18 years old)	Both	Normal	27543620	details
Feces	Detected but not Quantified		Adult (>18 years old)	Both	Normal	29808030	details
Saliva	Detected and Quantified	0.0201 +/- 0.0639 uM	Adult (>18 years old)	Not Specified	Normal	Sugimoto et al. (...	details
Saliva	Detected and Quantified	0.0917 +/- 0.0851 uM	Adult (>18 years old)	Not Specified	Normal	Sugimoto et al. (...	details
Urine	Detected and Quantified	<200 umol/mmol creatinine	Adult (>18 years old)	Female	Normal	15505778	details
Urine	Detected and Quantified	2.6-4.5 umol/mmol creatinine	Adult (>18 years old)	Female	Normal	27012787	details
Urine	Detected and Quantified	6.788 +/- 4.222 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Normal	Mordechai, Hien, ...	details
Urine	Detected but not Quantified		Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	27.0 (6.0-73.0) umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	Geigy Scientific ...	details
Urine	Detected and Quantified	1.4 (0.7-3.0) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	Geigy Scientific ...	details
Urine	Detected and Quantified	3 (0-10) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	2702744	details
Urine	Detected and Quantified	<50 umol/mmol creatinine	Not Specified	Not Specified	Normal	23705938	details
Urine	Detected but not Quantified		Adult (>18 years old)	Both	Normal	28157703	details
Urine	Detected and Quantified	2.4-3.6 umol/mmol creatinine	Adult (>18 years old)	Male	Normal	27012787	details
Urine	Detected and Quantified	<31.61 umol/mmol creatinine	Children (1 - 18 years old)	Both	Normal	BC Children's Hos...	details
Urine	Detected and Quantified	<200 umol/mmol creatinine	Not Specified	Not Specified	Normal	15505778	details
Urine	Detected and Quantified	2.8 (1.1 -5.8) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	28.1 (10.7-57.5) umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	8087979	details
Urine	Detected and Quantified	10.3 (4.3-31.4) umol/mmol creatinine	Children (1-13 years old)	Both	Normal	8087979	details
Urine	Detected and Quantified	9.9 (5.7-14.4) umol/mmol creatinine	Children (1-13 years old)	Both	Normal	8087979	details
Urine	Detected and Quantified	51.7 (13.1-101.1) umol/mmol creatinine	Infant (0-1 year old)	Female	Normal	8087979	details
Urine	Detected and Quantified	7.1 (2.2-24.5) umol/mmol creatinine	Adolescent (13-18 years old)	Not Specified	Normal	8087979	details
Urine	Detected and Quantified	0.025 +/- 0.001 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	16460720	details
Urine	Detected and Quantified	3.2(1.1-5.2) umol/mmol creatinine	Adult (>18 years old)	Both	Normal	24023812	details
Urine	Detected and Quantified	12.098 +/- 6.49 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Normal	Mordechai, Hien, ...	details
Urine	Detected and Quantified	0-110 umol/mmol creatinine	Newborn (0-30 days old)	Both	Normal	31506554	details

Abnormal Concentrations

Biospecimen	Status	Value	Age	Sex	Condition	Reference	Details
Feces	Detected but not Quantified		Adult (>18 years old)	Both	Colorectal cancer	25037050	details
Urine	Detected and Quantified	481 umol/mmol creatinine	Adult (>18 years old)	Female	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency	15505778	details
Urine	Detected and Quantified	1028.4 umol/mmol creatinine	Newborn (0-30 days old)	Male	3-hydroxy-3-methylglutaric- coenzyme A lyase deficiency	23705938	details
Urine	Detected and Quantified	10.581 +/- 10.628 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Eosinophilic esophagitis	Mordechai, Hien, ...	details
Urine	Detected and Quantified	1028.4 umol/mmol creatinine	Newborn (0-30 days old)	Male	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency	23705938	details
Urine	Detected but not Quantified		Adult (>18 years old)	Both	Bladder cancer	28157703	details
Urine	Detected and Quantified	481 umol/mmol creatinine	Adult (>18 years old)	Female	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency	15505778	details
Urine	Detected and Quantified	137.4 umol/mmol creatinine	Infant (0-1 year old)	Not Specified	Metabolic acidosis	947633	details
Urine	Detected and Quantified	17.227 +/- 8.202 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Eosinophilic esophagitis	Mordechai, Hien, ...	details
Urine	Detected and Quantified	31.947 +/- 39.294 umol/mmol creatinine	Children (1 - 13 years old)	Not Specified	Gastroesophageal reflux disease	Mordechai, Hien, ...	details

Associated Disorders and Diseases

Disease References

Colorectal cancer
Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18. [PubMed:25037050 ]
Eosinophilic esophagitis
(). Mordechai, Hien, and David S. Wishart. .
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Bischof F, Nagele T, Wanders RJ, Trefz FK, Melms A: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy. Ann Neurol. 2004 Nov;56(5):727-30. [PubMed:15505778 ] Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33. [PubMed:23705938 ] G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.

Associated OMIM IDs

114500 (Colorectal cancer)
610247 (Eosinophilic esophagitis)
246450 (3-Hydroxy-3-methylglutaryl-CoA lyase deficiency)

External Links

DrugBank ID

DB04377

Phenol Explorer Compound ID

Not Available

FoodDB ID

KNApSAcK ID

Chemspider ID

KEGG Compound ID

BioCyc ID

BiGG ID

Not Available

Wikipedia Link

Not Available

METLIN ID

5344

PubChem Compound

1662

PDB ID

Not Available

ChEBI ID

16831

Food Biomarker Ontology

Not Available

VMH ID

Not Available

References

Synthesis Reference

Klosterman, Harold J.; Smith, F. The isolation of b-hydroxy-b-methylglutaric acid from the seed of flax (Linum usitatissimum). Journal of the American Chemical Society (1954), 76 1229-30.

Material Safety Data Sheet (MSDS)

Download (PDF)

General References

Mitchell GA, Jakobs C, Gibson KM, Robert MF, Burlina A, Dionisi-Vici C, Dallaire L: Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency. Prenat Diagn. 1995 Aug;15(8):725-9. [PubMed:7479590 ]
Fu Z, Runquist JA, Forouhar F, Hussain M, Hunt JF, Miziorko HM, Kim JJ: Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria. J Biol Chem. 2006 Mar 17;281(11):7526-32. Epub 2005 Dec 5. [PubMed:16330550 ]
Guneral F, Bachmann C: Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clin Chem. 1994 Jun;40(6):862-6. [PubMed:8087979 ]
Wysocki SJ, Wilkinson SP, Hahnel R, Wong CY, Panegyres PK: 3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria. Clin Chim Acta. 1976 Aug 2;70(3):399-406. [PubMed:947633 ]
Tuchman M, McCann MT, Johnson PE, Lemieux B: Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development. Pediatr Res. 1991 Oct;30(4):315-21. [PubMed:1956713 ]
Truscott RJ, Halpern B, Wysocki SJ, Hahnel R, Wilcken B: Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase. Clin Chim Acta. 1979 Jul 2;95(1):11-16. [PubMed:509721 ]
Koling S, Kalhoff H, Schauerte P, Lehnert W, Diekmann L: [3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency]. Klin Padiatr. 2000 May-Jun;212(3):113-6. [PubMed:10916782 ]
Eiris J, Ribes A, Fernandez-Prieto R, Rodriguez-Garcia J, Rodriguez-Segade S, Castro-Gago M: [3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome]. Rev Neurol. 1998 Jun;26(154):911-4. [PubMed:9658458 ]
Gibson KM, Breuer J, Nyhan WL: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr. 1988 Dec;148(3):180-6. [PubMed:3063529 ]
Simons K, Toomre D: Lipid rafts and signal transduction. Nat Rev Mol Cell Biol. 2000 Oct;1(1):31-9. [PubMed:11413487 ]
Watson AD: Thematic review series: systems biology approaches to metabolic and cardiovascular disorders. Lipidomics: a global approach to lipid analysis in biological systems. J Lipid Res. 2006 Oct;47(10):2101-11. Epub 2006 Aug 10. [PubMed:16902246 ]
Sethi JK, Vidal-Puig AJ: Thematic review series: adipocyte biology. Adipose tissue function and plasticity orchestrate nutritional adaptation. J Lipid Res. 2007 Jun;48(6):1253-62. Epub 2007 Mar 20. [PubMed:17374880 ]
Lingwood D, Simons K: Lipid rafts as a membrane-organizing principle. Science. 2010 Jan 1;327(5961):46-50. doi: 10.1126/science.1174621. [PubMed:20044567 ]
Elshenawy S, Pinney SE, Stuart T, Doulias PT, Zura G, Parry S, Elovitz MA, Bennett MJ, Bansal A, Strauss JF 3rd, Ischiropoulos H, Simmons RA: The Metabolomic Signature of the Placenta in Spontaneous Preterm Birth. Int J Mol Sci. 2020 Feb 4;21(3). pii: ijms21031043. doi: 10.3390/ijms21031043. [PubMed:32033212 ]
Gunstone, Frank D., John L. Harwood, and Albert J. Dijkstra (2007). The lipid handbook with CD-ROM. CRC Press.

Enzymes

Enzyme Details

1. Hydroxymethylglutaryl-CoA lyase, mitochondrial

General function:: Involved in catalytic activity
Specific function:: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism.
Gene Name:: HMGCL
Uniprot ID:: P35914
Molecular weight:: 34359.84

Showing metabocard for 3-Hydroxymethylglutaric acid (HMDB0000355)

Structure for HMDB0000355 (3-Hydroxymethylglutaric acid)

Enzymes