3-methylglutaric acid profile

3-Methylglutaric acid (3-MGA) is an organic compound that is a dicarboxylic acid. It is a colorless solid that is soluble in water. 3-MGA is found in nature as a metabolite of leucine and isoleucine. It is also a precursor to the biosynthesis of mevalonic acid, which is a key intermediate in the biosynthesis of cholesterol and other isoprenoids. 3-MGA is a potential biomarker for certain metabolic diseases, such as maple syrup urine disease and glutaric aciduria type 1. 3-MGA has been studied for its potential therapeutic effects, such as its ability to reduce inflammation and improve insulin sensitivity. Its synthesis can be achieved via various methods, including the oxidation of 3-methylpentane or the reaction of 3-methylglutaric anhydride with water.'

ID Source	ID
PubMed CID	12284
CHEBI ID	68566
SCHEMBL ID	258152
MeSH ID	M0104413

Synonym
nsc 14870
unii-3q0p190c7b
3q0p190c7b ,
einecs 210-951-5
pentanedioic acid, 3-methyl-
626-51-7
3-methylglutaric acid ,
nsc14870
nsc-14870
3-methylpentanedioic acid
beta-methylglutaric acid
3-methylglutaric acid, 99%
099C94FB-2103-4FA2-91C8-B5700FC750CD
BMSE000575
AKOS005146191
M0330
LMFA01170117
methylglutaric acid
3-methyl-pentanedioic acid
A8660
3-methylpentanedioate
3-methylglutaricacid
S3347
FT-0616162
CHEBI:68566
.beta.-methylglutaric acid
glutaric acid, 3-methyl-
glutaric acid, .beta.-methyl-
SCHEMBL258152
monomethylglutaric acid
Q-101919
DTXSID50211649
3-methylglutaric acid, purum, >=98.0% (gc)
mfcd00002727
methyglutarate
3-methyl-glutarate
b-methyl-glutaric acid
beta-methylglutarate
b-methylglutarate
3-methylglutarate
b-methylglutaric acid
methylglutarate
beta-methyl-glutaric acid
3-methyl-glutaric acid
HY-113410
CS-0059397
3-methyl glutaric acid
Q27137013
SY049418
1219798-68-1
AS-39046
AMY4060
3-methylpropane-1,3-dicarboxylic acid
EN300-66371
3-methylpentanedioic--d4 acid
mga, 3mg acid
Z1041180516

Role	Description
metabolite	Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites.
[role information is derived from Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res]

Class	Description
alpha,omega-dicarboxylic acid
[compound class information is derived from Chemical Entities of Biological Interest (ChEBI), Hastings J, Owen G, Dekker A, Ennis M, Kale N, Muthukrishnan V, Turner S, Swainston N, Mendes P, Steinbeck C. (2016). ChEBI in 2016: Improved services and an expanding collection of metabolites. Nucleic Acids Res]

Timeframe	Studies, This Drug (%)	All Drugs %
pre-1990	6 (15.38)	18.7374
1990's	11 (28.21)	18.2507
2000's	7 (17.95)	29.6817
2010's	13 (33.33)	24.3611
2020's	2 (5.13)	2.80
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Publication Type	This drug (%)	All Drugs (%)
Trials	0 (0.00%)	5.53%
Reviews	1 (2.50%)	6.00%
Case Studies	18 (45.00%)	4.05%
Observational	1 (2.50%)	0.25%
Other	20 (50.00%)	84.16%
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Substance	Relationship Strength	Studies	Classes	Roles
carnitine [no description available]	7.75	3	amino-acid betaine	human metabolite; mouse metabolite
lactic acid Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed). 2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.	2.01	1	2-hydroxy monocarboxylic acid	algal metabolite; Daphnia magna metabolite
5,6-dihydroorotate 4,5-dihydroorotic acid: RN given refers to cpd without isomeric designation; structure. dihydroorotic acid : A pyrimidinemonocarboxylic acid that results from the base-catalysed cyclisation of N(alpha)-carbethoxyasparagine.	2.31	1	monocarboxylic acid; N-acylurea; pyrimidinemonocarboxylic acid; secondary amide
glutaric acid glutaric acid: RN given refers to parent cpd. glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.	2	1	alpha,omega-dicarboxylic acid; dicarboxylic fatty acid	Daphnia magna metabolite; human metabolite
glycine [no description available]	2.47	2	alpha-amino acid; amino acid zwitterion; proteinogenic amino acid; serine family amino acid	EC 2.1.2.1 (glycine hydroxymethyltransferase) inhibitor; fundamental metabolite; hepatoprotective agent; micronutrient; neurotransmitter; NMDA receptor agonist; nutraceutical
orotic acid Orotic Acid: An intermediate product in PYRIMIDINE synthesis which plays a role in chemical conversions between DIHYDROFOLATE and TETRAHYDROFOLATE.. orotic acid : A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6.	2.31	1	pyrimidinemonocarboxylic acid	Escherichia coli metabolite; metabolite; mouse metabolite
1-anilino-8-naphthalenesulfonate 1-anilino-8-naphthalenesulfonate: RN given refers to parent cpd. 8-anilinonaphthalene-1-sulfonic acid : A naphthalenesulfonic acid that is naphthalene-1-sulfonic acid substituted by a phenylamino group at position 8.	2.17	1	aminonaphthalene; naphthalenesulfonic acid	fluorescent probe
meglutol Meglutol: An antilipemic agent which lowers cholesterol, triglycerides, serum beta-lipoproteins and phospholipids. It acts by interfering with the enzymatic steps involved in the conversion of acetate to hydroxymethylglutaryl coenzyme A as well as inhibiting the activity of HYDROXYMETHYLGLUTARYL COA REDUCTASES which is the rate limiting enzyme in the biosynthesis of cholesterol.. 3-hydroxy-3-methylglutaric acid : A dicarboxylic acid that is glutaric acid in which one of the two hydrogens at position 3 is substituted by a hydroxy group, while the other is substituted by a methyl group. It has been found to accumulate in urine of patients suffering from HMG-CoA lyase (3-hydroxy-3-methylglutaryl-CoA lyase, EC 4.1.3.4) deficiency. It occurs as a plant metabolite in Crotalaria dura.	6.11	39	3-hydroxy carboxylic acid; dicarboxylic acid; tertiary alcohol	anticholesteremic drug; antimetabolite; EC 1.1.1.34/EC 1.1.1.88 (hydroxymethylglutaryl-CoA reductase) inhibitor; human metabolite; plant metabolite
pd 98059 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one: inhibits MAP kinase kinase (MEK) activity, p42 MAPK and p44 MAPK; structure in first source. 2-(2-amino-3-methoxyphenyl)chromen-4-one : A member of the class of monomethoxyflavones that is 3'-methoxyflavone bearing an additional amino substituent at position 2'.	2.13	1	aromatic amine; monomethoxyflavone	EC 2.7.11.24 (mitogen-activated protein kinase) inhibitor; geroprotector
alanine Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.. alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.	2.31	1	alanine zwitterion; alanine; L-alpha-amino acid; proteinogenic amino acid; pyruvate family amino acid	EC 4.3.1.15 (diaminopropionate ammonia-lyase) inhibitor; fundamental metabolite
lysine Lysine: An essential amino acid. It is often added to animal feed.. lysine : A diamino acid that is caproic (hexanoic) acid bearing two amino substituents at positions 2 and 6.. L-lysine : An L-alpha-amino acid; the L-isomer of lysine.	2.31	1	aspartate family amino acid; L-alpha-amino acid zwitterion; L-alpha-amino acid; lysine; organic molecular entity; proteinogenic amino acid	algal metabolite; anticonvulsant; Escherichia coli metabolite; human metabolite; micronutrient; mouse metabolite; nutraceutical; plant metabolite; Saccharomyces cerevisiae metabolite
leucine Leucine: An essential branched-chain amino acid important for hemoglobin formation.. leucine : A branched-chain amino acid that consists of glycine in which one of the hydrogens attached to the alpha-carbon is substituted by an isobutyl group.	3.22	6	amino acid zwitterion; L-alpha-amino acid; leucine; proteinogenic amino acid; pyruvate family amino acid	algal metabolite; Escherichia coli metabolite; human metabolite; mouse metabolite; plant metabolite; Saccharomyces cerevisiae metabolite
arginine Arginine: An essential amino acid that is physiologically active in the L-form.. arginine : An alpha-amino acid that is glycine in which the alpha-is substituted by a 3-guanidinopropyl group.	2.31	1	arginine; glutamine family amino acid; L-alpha-amino acid; proteinogenic amino acid	biomarker; Escherichia coli metabolite; micronutrient; mouse metabolite; nutraceutical
isovaleric acid isovaleric acid: structure. isovaleric acid : A C5, branched-chain saturated fatty acid.	1.96	1	branched-chain saturated fatty acid; methylbutyric acid; short-chain fatty acid	mammalian metabolite; plant metabolite
malondialdehyde Malondialdehyde: The dialdehyde of malonic acid.. malonaldehyde : A dialdehyde that is propane substituted by two oxo groups at the terminal carbon atoms respectively. A biomarker of oxidative damage to lipids caused by smoking, it exists in vivo mainly in the enol form.	2.08	1	dialdehyde	biomarker
ethylmalonic acid ethylmalonic acid: don't confuse with diethyl malonate, which is a diester. ethylmalonate : A dicarboxylic acid anion obtained by deprotonation of at least one of the carboxy groups of ethylmalonic acid.. ethylmalonic acid : A dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group.	2	1	dicarboxylic acid; dicarboxylic fatty acid	human metabolite
d-alpha tocopherol Vitamin E: A generic descriptor for all TOCOPHEROLS and TOCOTRIENOLS that exhibit ALPHA-TOCOPHEROL activity. By virtue of the phenolic hydrogen on the 2H-1-benzopyran-6-ol nucleus, these compounds exhibit varying degree of antioxidant activity, depending on the site and number of methyl groups and the type of ISOPRENOIDS.. tocopherol : A collective name for a group of closely related lipids that contain a chroman-6-ol nucleus substituted at position 2 by a methyl group and by a saturated hydrocarbon chain consisting of three isoprenoid units. They are designated as alpha-, beta-, gamma-, and delta-tocopherol depending on the number and position of additional methyl substituents on the aromatic ring. Tocopherols occur in vegetable oils and vegetable oil products, almost exclusively with R,R,R configuration. Tocotrienols differ from tocopherols only in having three double bonds in the hydrocarbon chain.. vitamin E : Any member of a group of fat-soluble chromanols that exhibit biological activity against vitamin E deficiency. The vitamers in this class consists of a chroman-6-ol core which is substituted at position 2 by a methyl group and (also at position 2) either a saturated or a triply-unsaturated hydrocarbon chain consisting of three isoprenoid units. The major function of vitamin E is to act as a natural antioxidant by scavenging free radicals and molecular oxygen.. (R,R,R)-alpha-tocopherol : An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils.	2.08	1	alpha-tocopherol	algal metabolite; antiatherogenic agent; anticoagulant; antioxidant; antiviral agent; EC 2.7.11.13 (protein kinase C) inhibitor; immunomodulator; micronutrient; nutraceutical; plant metabolite
methyl tert-butyl ether methyl tert-butyl ether: used to dissolve gallstones; gasoline additive. methyl tert-butyl ether : An ether having methyl and tert-butyl as the two alkyl components.	2.17	1	ether	fuel additive; metabolite; non-polar solvent
fluorescein-5-isothiocyanate Fluorescein-5-isothiocyanate: Fluorescent probe capable of being conjugated to tissue and proteins. It is used as a label in fluorescent antibody staining procedures as well as protein- and amino acid-binding techniques.. fluorescein 5-isothiocyanate : The 5-isomer of fluorescein isothiocyanate. Acts as a fluorescent probe capable of being conjugated to tissue and proteins; used as a label in fluorescent antibody staining procedures as well as protein- and amino acid-binding techniques.	2.06	1	fluorescein isothiocyanate
bezafibrate [no description available]	7.21	1	aromatic ether; monocarboxylic acid amide; monocarboxylic acid; monochlorobenzenes	antilipemic drug; environmental contaminant; geroprotector; xenobiotic
pyranine pyranine: structure	2.06	1	organic sodium salt	fluorochrome
beta-hydroxyisovaleric acid 3-hydroxyisovaleric acid : A 3-hydroxy monocarboxylic acid that is isovaleric acid substituted at position 3 by a hydroxy group. Used as indicator of biotin deficiency.	3.51	8	3-hydroxy monocarboxylic acid	human metabolite
coenzyme a [no description available]	1.97	1	adenosine 3',5'-bisphosphate	coenzyme; Escherichia coli metabolite; mouse metabolite
lanthionine lanthionine: a thioether analogue of cystine; RN given refers to (DL)-isomer; structure; a component of lantibiotics (BACTERIOCINS). lanthionine : An alanine derivative in which two alanine residues are linked on their beta-carbons by a thioether linkage.	2.31	1	alanine derivative; non-proteinogenic alpha-amino acid; organic sulfide	bacterial metabolite
valerates Valerates: Derivatives of valeric acid, including its salts and esters.	3.51	8	short-chain fatty acid anion; straight-chain saturated fatty acid anion	plant metabolite
argininic acid [no description available]	2.31	1	organonitrogen compound; organooxygen compound
saccharopine L-saccharopine : The N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.	2.31	1	amino acid opine; L-lysine derivative	human metabolite; mouse metabolite; Saccharomyces cerevisiae metabolite
nicotinate ribonucleoside D-ribosylnicotinate : Conjugate base of D-ribosylnicotinic acid.	2.31	1	ammonium betaine	human metabolite
beta-methylcrotonylglycine beta-methylcrotonylglycine: structure. 3-methylcrotonyl glycine : An N-acylglycine in which the acyl group is specified as 3-methylbut-2-enoyl.	2.47	2	N-acylglycine	metabolite
fumaric acid fumaric acid: see also record for ferrous fumarate; use FUMARATES for general fumaric acid esters. fumaric acid : A butenedioic acid in which the C=C double bond has E geometry. It is an intermediate metabolite in the citric acid cycle.	2	1	butenedioic acid	food acidity regulator; fundamental metabolite; geroprotector
3-methylglutaconic acid (E)-3-methylglutaconic acid : A dicarboxylic acid comprising (E)-glutaconic acid carrying a 3-methyl substituent.	4.51	24	dicarboxylic acid
ovalbumin Ovalbumin: An albumin obtained from the white of eggs. It is a member of the serpin superfamily.	2.06	1
zinc protoporphyrin ix [no description available]	2.13	1
dinoprost Dinoprost: A naturally occurring prostaglandin that has oxytocic, luteolytic, and abortifacient activities. Due to its vasocontractile properties, the compound has a variety of other biological actions.. prostaglandin F2alpha : A prostaglandins Falpha that is prosta-5,13-dien-1-oic acid substituted by hydroxy groups at positions 9, 11 and 15. It is a naturally occurring prostaglandin used to induce labor.	2.21	1	monocarboxylic acid; prostaglandins Falpha	human metabolite; mouse metabolite
8-epi-prostaglandin f2alpha 8-epi-prostaglandin F2alpha: a potent preglomerular vasoconstrictor acting principally through thromboxane A2 receptor activation. 8-epi-prostaglandin F2alpha : An isoprostane that is prostaglandin F2alpha having inverted stereochemistry at the 8-position.	2.21	1	F2-isoprostane	biomarker; bronchoconstrictor agent; vasoconstrictor agent
fumarates Fumarates: Compounds based on fumaric acid.. fumarate(2-) : A C4-dicarboxylate that is the E-isomer of but-2-enedioate(2-)	2.39	2	butenedioate; C4-dicarboxylate	human metabolite; metabolite; Saccharomyces cerevisiae metabolite
dizocilpine maleate Dizocilpine Maleate: A potent noncompetitive antagonist of the NMDA receptor (RECEPTORS, N-METHYL-D-ASPARTATE) used mainly as a research tool. The drug has been considered for the wide variety of neurodegenerative conditions or disorders in which NMDA receptors may play an important role. Its use has been primarily limited to animal and tissue experiments because of its psychotropic effects.. dizocilpine maleate : A maleate salt obtained by reaction of dizocilpine with one equivalent of maleic acid.	2.08	1	maleate salt; tetracyclic antidepressant	anaesthetic; anticonvulsant; neuroprotective agent; nicotinic antagonist; NMDA receptor antagonist
octanoylcarnitine octanoylcarnitine: RN given refers to cpd without isomeric designation. O-octanoyl-L-carnitine : The L-enantiomer of an O-octanoylcarnitine.	2.31	1	O-octanoylcarnitine; saturated fatty acyl-L-carnitine	human metabolite
7,8-dihydroneopterin 7,8-dihydroneopterin: an antioxidant. 7,8-dihydroneopterin : A neopterin where positions C-7 and C-8 have been hydrogenated.	2.31	1	dihydropterin; neopterins	Escherichia coli metabolite; human metabolite; metabolite; mouse metabolite; Saccharomyces cerevisiae metabolite
guanine [no description available]	2.21	1	2-aminopurines; oxopurine; purine nucleobase	algal metabolite; Escherichia coli metabolite; human metabolite; mouse metabolite; Saccharomyces cerevisiae metabolite
guanosine ribonucleoside : Any nucleoside where the sugar component is D-ribose.	2.21	1	guanosines; purines D-ribonucleoside	fundamental metabolite
neopterin [no description available]	2.31	1
8-hydroxyguanosine 8-hydroxyguanosine: immunostimulant for B lymphocytes; structure given in first source	2.21	1	purine nucleoside
8-hydroxyguanine 7,8-dihydro-8-oxoguanine: was substituted for guanine at G(8), G(9), G(14), or G(15) in the human telomeric oligonucleotide 5'-d[AGGGTTAG(8)G(9)GTT AG(14)G(15)GTTAGGGTGT]-3'. 7,8-dihydro-8-oxoguanine : An oxopurine that is guanine in which the hydrogen at position 8 is replaced by an oxo group and in which the nitrogens at positions 7 and 9 each bear a hydrogen.	2.21	1	oxopurine
8-hydroxy-2'-deoxyguanosine 8-Hydroxy-2'-Deoxyguanosine: Common oxidized form of deoxyguanosine in which C-8 position of guanine base has a carbonyl group.. 8-hydroxy-2'-deoxyguanosine : Guanosine substituted at the purine 8-position by a hydroxy group. It is used as a biomarker of oxidative DNA damage.	2.21	1	guanosines	biomarker

Condition	Relationship Strength	Studies
Diabetes Mellitus, Gestational [description not available]	2.31	1
Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	2.7	3
Diabetes, Gestational Diabetes mellitus induced by PREGNANCY but resolved at the end of pregnancy. It does not include previously diagnosed diabetics who become pregnant (PREGNANCY IN DIABETICS). Gestational diabetes usually develops in late pregnancy when insulin antagonistic hormones peaks leading to INSULIN RESISTANCE; GLUCOSE INTOLERANCE; and HYPERGLYCEMIA.	2.31	1
Amino Acid Metabolism Disorders, Inborn [description not available]	3.88	12
Acute Brain Injuries [description not available]	2.21	1
Brain Injuries Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.	2.21	1
Metabolic Acidosis [description not available]	2.68	3
Fasting Hypoglycemia HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast.	2.08	1
Acidosis A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up.	2.68	3
Acute Disease Disease having a short and relatively severe course.	2.08	1
Hypoglycemia A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.	2.08	1
Chorea Disorders [description not available]	2.11	1
Cognition Disorders Disorders characterized by disturbances in mental processes related to learning, thinking, reasoning, and judgment.	2.42	2
Inborn Errors of Metabolism [description not available]	2.9	4
Autosomal Dominant Hereditary Spastic Paraplegia [description not available]	2.11	1
Chorea Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES.	2.11	1
Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	2.9	4
Optic Atrophy Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.	2.7	3
Spastic Paraplegia, Hereditary A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)	2.11	1
Astrocytosis [description not available]	2.13	1
Innate Inflammatory Response [description not available]	2.13	1
Inflammation A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.	2.13	1
Disease Models, Animal Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases.	2.13	1
Cardiac Diseases [description not available]	2.13	1
Heart Diseases Pathological conditions involving the HEART including its structural and functional abnormalities.	2.13	1
Deficiency, Glucosephosphatase [description not available]	2.01	1
Glycogen Storage Disease Type I An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.	2.01	1
Aprosodia [description not available]	2.38	2
Dyskinesia Syndromes [description not available]	1.98	1
Symptom Cluster [description not available]	2.9	4
Movement Disorders Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.	1.98	1
Syndrome A characteristic symptom complex.	2.9	4
Acquired Metabolic Diseases, Brain [description not available]	1.98	1
Respiration Disorders Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available.	1.98	1
Luft Disease [description not available]	1.98	1
Lactic Acidosis [description not available]	2.38	2
Cardiomyopathy, Hypertrophic Obstructive [description not available]	1.98	1
Acidosis, Lactic Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE.	2.38	2
Cardiomyopathy, Hypertrophic A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).	1.98	1
Mitochondrial Myopathies A group of muscle diseases associated with abnormal mitochondria function.	1.98	1
Congenital Adrenal Hyperplasia [description not available]	2	1
Adrenal Hyperplasia, Congenital A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.	2	1
Auditory Processing Disorder, Central [description not available]	2	1
Encephalomyopathies, Mitochondrial [description not available]	2	1
Diseases in Twins Disorders affecting TWINS, one or both, at any age.	1.98	1
Nervous System Disorders [description not available]	1.98	1
Conjugate Nystagmus [description not available]	1.98	1
Hereditary Optic Atrophy [description not available]	1.98	1
Nervous System Diseases Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.	1.98	1
Cardiomyopathy, Congestive [description not available]	1.97	1
Stunted Growth [description not available]	1.97	1
Cardiac Failure [description not available]	1.97	1
Muscle Disorders [description not available]	1.97	1
Cardiomyopathy, Dilated A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.	1.97	1
Growth Disorders Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.	1.97	1
Heart Failure A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.	1.97	1
Muscular Diseases Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.	1.97	1
Neutropenia A decrease in the number of NEUTROPHILS found in the blood.	1.97	1
Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure.	1.97	1
Viral Diseases [description not available]	1.97	1
Virus Diseases A general term for diseases caused by viruses.	1.97	1
Deficiency, Mental [description not available]	1.96	1
Decreased Muscle Tone [description not available]	1.96	1
Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	1.96	1

3-methylglutaric acid

Cross-References

Synonyms (57)

Roles (1)

Drug Classes (1)

Research

Studies (39)

Market Indicators

Research Demand Index: 42.48

Study Types