dihydrolipoamide

Description Research Excerpts Clinical Trials Roles Classes Pathways Study Profile Bioassays Related Drugs Related Conditions Protein Interactions Research Growth Market Indicators

Dihydrolipoamide is a reduced form of lipoamide, a cofactor essential for several key metabolic pathways, including the pyruvate dehydrogenase complex (PDC) and the alpha-ketoglutarate dehydrogenase complex (KGDHC). It plays a crucial role in oxidative decarboxylation reactions, transferring electrons and acetyl groups during energy production. Dihydrolipoamide is synthesized from lipoic acid, a sulfur-containing fatty acid. The reduction of lipoamide to dihydrolipoamide is catalyzed by specific enzymes within the PDC and KGDHC, involving NADH as a reducing agent. Dihydrolipoamide is studied to understand its role in metabolism, investigate potential therapeutic targets for metabolic disorders, and explore its potential applications in biosensors and biofuel production. Its importance lies in its ability to facilitate the transfer of electrons and acyl groups, which are critical for energy production and biosynthesis.'

Cross-References

ID Source	ID
PubMed CID	663
CHEBI ID	17694
SCHEMBL ID	37411
MeSH ID	M0050593

Synonyms (20)

Synonym
CHEBI:17694
6,8-dimercaptooctanamide
6,8-disulfanyloctanamide
3884-47-7
C00579
dihydrothioctamide
DIHYDROLIPOAMIDE ,
6,8-bis(sulfanyl)octanamide
octanamide, 6,8-dimercapto-
unii-8rf8an4jfl
8rf8an4jfl ,
SCHEMBL37411
6,8-bis-sulfanyloctanamide
6,8-disulfanyloctanimidic acid
LMFA08010019
6,8-dimercaptooctanoic acid amide
6,8-dimercapto-octanamide
Q3027880
DTXSID90863287
PD038094

Research Excerpts

Toxicity

Excerpt	Reference	Relevance
" Prevention of the acute adverse effects of doxorubicin on myocardium may hinder the later development of cardiomyopathy."	( Prevention of doxorubicin-induced acute cardiotoxicity by an experimental antioxidant compound. Czopf, L; Deres, P; Habon, T; Halmosi, R; Hideg, K; Kalai, T; Kovacs, K; Palfi, A; Sumegi, B; Toth, A; Toth, K, 2005)	0.33

[information is derived through text-mining from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Roles (4)

Role	Description
human metabolite	Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens).
cofactor	An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group).
Saccharomyces cerevisiae metabolite	Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae).
mouse metabolite	Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus).
[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]

Drug Classes (2)

Class	Description
dithiol
monocarboxylic acid amide	A carboxamide derived from a monocarboxylic 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]

Pathways (30)

Pathway	Proteins	Compounds
Valine, Leucine, and Isoleucine Degradation	28	52
Pyruvate Metabolism	21	39
beta-Ketothiolase Deficiency	28	52
2-Methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency	28	52
Propionic Acidemia	28	52
3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency	28	52
Maple Syrup Urine Disease	28	52
3-Methylcrotonyl-CoA Carboxylase Deficiency Type I	28	52
3-Methylglutaconic Aciduria Type I	28	52
3-Methylglutaconic Aciduria Type III	28	52
Methylmalonate Semialdehyde Dehydrogenase Deficiency	28	52
Methylmalonic Aciduria	28	52
Isovaleric Aciduria	28	52
Leigh Syndrome	21	39
Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency)	21	39
Pyruvate Dehydrogenase Complex Deficiency	21	39
3-Methylglutaconic Aciduria Type IV	28	52
3-Hydroxyisobutyric Acid Dehydrogenase Deficiency	28	52
3-Hydroxyisobutyric Aciduria	28	52
Isobutyryl-CoA Dehydrogenase Deficiency	28	52
Isovaleric Acidemia	28	52
Primary Hyperoxaluria II, PH2	21	39
Pyruvate Kinase Deficiency	21	39
Glycolysis and Pyruvate Dehydrogenase	24	28
2-Methyl-3-hydroxybutryl-CoA Dehydrogenase Deficiency	29	52
Acetyl-CoA + Dihydro-lipoamide = CoA + 6-S-Acetyl-dihydro-lipoamide ( Pyruvate metabolism )	2	4
Citrate cycle ( Citrate cycle )	21	29
Succinyl-CoA + Dihydro-lipoamide = CoA + S-Succinyl-dihydro-lipoamide ( Citrate cycle )	1	4
NAD+ + Dihydro-lipoamide = NADH + Lipoamide ( Pyruvate metabolism )	1	4
Pyruvate metabolism ( Pyruvate metabolism )	30	27

Research

Studies (45)

Timeframe	Studies, This Drug (%)	All Drugs %
pre-1990	16 (35.56)	18.7374
1990's	13 (28.89)	18.2507
2000's	8 (17.78)	29.6817
2010's	5 (11.11)	24.3611
2020's	3 (6.67)	2.80
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Market Indicators

Research Demand Index: 45.21

According to the monthly volume, diversity, and competition of internet searches for this compound, as well the volume and growth of publications, there is estimated to be strong demand-to-supply ratio for research on this compound.

Metric	This Compound (vs All)
Research Demand Index	45.21 (24.57)
Research Supply Index	3.83 (2.92)
Research Growth Index	4.47 (4.65)
Search Engine Demand Index	65.96 (26.88)
Search Engine Supply Index	2.00 (0.95)

This Compound (45.21)

All Compounds (24.57)

Study Types

Publication Type	This drug (%)	All Drugs (%)
Trials	0 (0.00%)	5.53%
Reviews	1 (2.22%)	6.00%
Case Studies	1 (2.22%)	4.05%
Observational	0 (0.00%)	0.25%
Other	43 (95.56%)	84.16%
[information is prepared from research data collected from National Library of Medicine (NLM), extracted Dec-2023]

Substance	Relationship Strength	Studies	Classes	Roles
dihydrolipoic acid dihydrolipoic acid: RN given refers to parent cpd without isomeric designation. dihydrolipoic acid : A thio-fatty acid that is reduced form of lipoic acid. A potent antioxidant shown to directly destroy superoxide, hydroperoxy and hydroxyl radicals; also has neuroprotective and anti-tumour effects.. dihydrolipoate : The conjugate base of dihydrolipoic acid.	2.68	3	thio-fatty acid	antioxidant; human metabolite; neuroprotective agent
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.	2.05	1	2-hydroxy monocarboxylic acid	algal metabolite; Daphnia magna metabolite
glycerol Moon: The natural satellite of the planet Earth. It includes the lunar cycles or phases, the lunar month, lunar landscapes, geography, and soil.	1.95	1	alditol; triol	algal metabolite; detergent; Escherichia coli metabolite; geroprotector; human metabolite; mouse metabolite; osmolyte; Saccharomyces cerevisiae metabolite; solvent
lipoamide Lipozyme: lipase from Rhizomucor miehei immobilized on anion exchange resin	2.9	4	dithiolanes; monocarboxylic acid amide	Escherichia coli metabolite; human metabolite; mouse metabolite; Saccharomyces cerevisiae metabolite
thioctic acid Thioctic Acid: An octanoic acid bridged with two sulfurs so that it is sometimes also called a pentanoic acid in some naming schemes. It is biosynthesized by cleavage of LINOLEIC ACID and is a coenzyme of oxoglutarate dehydrogenase (KETOGLUTARATE DEHYDROGENASE COMPLEX). It is used in DIETARY SUPPLEMENTS.	6.22	45	dithiolanes; heterocyclic fatty acid; thia fatty acid	fundamental metabolite; geroprotector
thiosulfates Thiosulfates: Inorganic salts of thiosulfuric acid possessing the general formula R2S2O3.. thiosulfate(2-) : A divalent inorganic anion obtained by removal of both protons from thiosulfuric acid.	1.95	1	divalent inorganic anion; sulfur oxide; sulfur oxoanion	human metabolite
dithionite Dithionite: Dithionite. The dithionous acid ion and its salts.	1.96	1	sulfur oxide; sulfur oxoanion
spermine [no description available]	1.97	1	polyazaalkane; tetramine	antioxidant; fundamental metabolite; immunosuppressive agent
thiamine thiamine(1+) : A primary alcohol that is 1,3-thiazol-3-ium substituted by (4-amino-2-methylpyrimidin-5-yl)methyl, methyl and 2-hydroxyethyl groups at positions 3, 4 and 5, respectively.	2.05	1	primary alcohol; vitamin B1	Escherichia coli metabolite; human metabolite; mouse metabolite; Saccharomyces cerevisiae metabolite
dimercaprol Dimercaprol: An anti-gas warfare agent that is effective against Lewisite (dichloro(2-chlorovinyl)arsine) and formerly known as British Anti-Lewisite or BAL. It acts as a chelating agent and is used in the treatment of arsenic, gold, and other heavy metal poisoning.. dimercaprol : A dithiol that is propane-1,2-dithiol in which one of the methyl hydrogens is replaced by a hydroxy group. a chelating agent originally developed during World War II as an experimental antidote against the arsenic-based poison gas Lewisite, it has been used clinically since 1949 for the treatment of poisoning by arsenic, mercury and gold. It can also be used for treatment of poisoning by antimony, bismuth and possibly thallium, and (with sodium calcium edetate) in cases of acute leaad poisoning. Administration is by (painful) intramuscular injection of a suspension of dimercaprol in peanut oil, typically every 4 hours for 2-10 days depending on the toxicity. In the past, dimercaprol was also used for the treatment of Wilson's disease, a severely debilitating genetic disorder in which the body tends to retain copper, with resultant liver and brain injury.	1.98	1	dithiol; primary alcohol	chelator
guanidine Guanidine: A strong organic base existing primarily as guanidium ions at physiological pH. It is found in the urine as a normal product of protein metabolism. It is also used in laboratory research as a protein denaturant. (From Martindale, the Extra Pharmacopoeia, 30th ed and Merck Index, 12th ed) It is also used in the treatment of myasthenia and as a fluorescent probe in HPLC.. guanidine : An aminocarboxamidine, the parent compound of the guanidines.	1.99	1	carboxamidine; guanidines; one-carbon compound
iodoacetamide [no description available]	1.97	1
iopanoic acid Iopanoic Acid: Radiopaque medium used as diagnostic aid.	1.96	1	monocarboxylic acid
beta-lapachone beta-lapachone: antineoplastic inhibitor of reverse transcriptase, DNA topoisomerase, and DNA polymerase. beta-lapachone : A benzochromenone that is 3,4-dihydro-2H-benzo[h]chromene-5,6-dione substituted by geminal methyl groups at position 2. Isolated from Tabebuia avellanedae, it exhibits antineoplastic and anti-inflammatory activities.	6.99	1	benzochromenone; orthoquinones	anti-inflammatory agent; antineoplastic agent; plant metabolite
ethylmaleimide Ethylmaleimide: A sulfhydryl reagent that is widely used in experimental biochemical studies.	2.4	2	maleimides	anticoronaviral agent; EC 1.3.1.8 [acyl-CoA dehydrogenase (NADP(+))] inhibitor; EC 2.1.1.122 [(S)-tetrahydroprotoberberine N-methyltransferase] inhibitor; EC 2.7.1.1 (hexokinase) inhibitor
thyroxine Thyroxine: The major hormone derived from the thyroid gland. Thyroxine is synthesized via the iodination of tyrosines (MONOIODOTYROSINE) and the coupling of iodotyrosines (DIIODOTYROSINE) in the THYROGLOBULIN. Thyroxine is released from thyroglobulin by proteolysis and secreted into the blood. Thyroxine is peripherally deiodinated to form TRIIODOTHYRONINE which exerts a broad spectrum of stimulatory effects on cell metabolism.. thyroxine : An iodothyronine compound having iodo substituents at the 3-, 3'-, 5- and 5'-positions.	1.96	1	2-halophenol; iodophenol; L-phenylalanine derivative; non-proteinogenic L-alpha-amino acid; thyroxine zwitterion; thyroxine	antithyroid drug; human metabolite; mouse metabolite; thyroid hormone
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.	2.39	2	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
9,10-phenanthrenequinone 9,10-phenanthrenequinone: structure	1.98	1	phenanthrenes
thiamine pyrophosphate Thiamine Pyrophosphate: The coenzyme form of Vitamin B1 present in many animal tissues. It is a required intermediate in the PYRUVATE DEHYDROGENASE COMPLEX and the KETOGLUTARATE DEHYDROGENASE COMPLEX.. thiamine(1+) diphosphate chloride : An organic chloride salt of thiamine(1+) diphosphate.	2.37	2	organic chloride salt; vitamin B1
nitroblue tetrazolium Nitroblue Tetrazolium: Colorless to yellow dye that is reducible to blue or black formazan crystals by certain cells; formerly used to distinguish between nonbacterial and bacterial diseases, the latter causing neutrophils to reduce the dye; used to confirm diagnosis of chronic granulomatous disease.	2.03	1	organic cation
2,6-dichloroindophenol 2,6-Dichloroindophenol: A dye used as a reagent in the determination of vitamin C.. 2,6-dichloroindophenol : A quinone imine that is indophenol substituted by chloro groups at positions 2 and 6.. N-3,5-dichloro-4-hydroxyphenyl-1,4-benzoquinone imine : 1,4-benzoquinone imine having a 3,5-dichloro-4-hydroxyphenyl substituent attached to the nitrogen atom.	1.95	1	dichlorobenzene; quinone imine
dithiothreitol 1,4-dimercaptobutane-2,3-diol : A glycol that is butane-2,3-diol in which a hydrogen from each of the methyl groups is replaced by a thiol group.. 1,4-dithiothreitol : The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol.	2.88	4	1,4-dimercaptobutane-2,3-diol; butanediols; dithiol; glycol; thiol	chelator; human metabolite; reducing agent
chromium Chromium: A trace element that plays a role in glucose metabolism. It has the atomic symbol Cr, atomic number 24, and atomic weight 52. According to the Fourth Annual Report on Carcinogens (NTP85-002,1985), chromium and some of its compounds have been listed as known carcinogens.. chromium ion : An chromium atom having a net electric charge.. chromium atom : A chromium group element atom that has atomic number 24.	7.13	1	chromium group element atom; metal allergen	micronutrient
sodium selenite disodium selenite : An inorganic sodium salt composed of sodium and selenite ions in a 2:1 ratio.	2	1	inorganic sodium salt; selenite salt	nutraceutical
chromium chromium hexavalent ion: a human respiratory carcinogen	7.13	1	chromium cation; monoatomic hexacation
phenyl acetate phenyl acetate: The ester formed between phenol and acetic acid. Don't confuse with phenylacetic acid derivatives listed under PHENYLACETATES.. phenyl acetate : An acetate ester obtained by the formal condensation of phenol with acetic acid.	1.95	1	benzenes; phenyl acetates
adenosine diphosphate ribose Adenosine Diphosphate Ribose: An ester formed between the aldehydic carbon of RIBOSE and the terminal phosphate of ADENOSINE DIPHOSPHATE. It is produced by the hydrolysis of nicotinamide-adenine dinucleotide (NAD) by a variety of enzymes, some of which transfer an ADP-ribosyl group to target proteins.	2	1	ADP-sugar	Escherichia coli metabolite; mouse metabolite
3-fluoropyruvate 3-fluoropyruvate: a substrate for E coli pyruvate dehydrogenase; structure; RN given refers to parent cpd. 3-fluoropyruvic acid : A pyruvic acid derivative having a 3-fluoro substituent.. 3-fluoropyruvate : The anion of 3-fluoropyruvic acid.	7.37	2	2-oxo monocarboxylic acid; organofluorine compound
astragaloside a [no description available]	2.41	1
2-acetylthiamine pyrophosphate 2-acetylthiamine pyrophosphate: acetyl donor to dihydrolipoamide	2.37	2
singlet oxygen Singlet Oxygen: An excited state of molecular oxygen generated photochemically or chemically. Singlet oxygen reacts with a variety of biological molecules such as NUCLEIC ACIDS; PROTEINS; and LIPIDS; causing oxidative damages.	1.99	1	chalcogen; monoatomic oxygen; nonmetal atom	macronutrient
a 2545 A 2545: structure in first source	2.02	1
hexacyanoferrate iii hexacyanoferrate III: RN given refers to parent cpd	1.95	1
acetyl coenzyme a Acetyl Coenzyme A: Acetyl CoA participates in the biosynthesis of fatty acids and sterols, in the oxidation of fatty acids and in the metabolism of many amino acids. It also acts as a biological acetylating agent.	1.99	1	acyl-CoA	acyl donor; coenzyme; effector; fundamental metabolite
flavin-adenine dinucleotide Flavin-Adenine Dinucleotide: A condensation product of riboflavin and adenosine diphosphate. The coenzyme of various aerobic dehydrogenases, e.g., D-amino acid oxidase and L-amino acid oxidase. (Lehninger, Principles of Biochemistry, 1982, p972)	2.69	3	flavin adenine dinucleotide; vitamin B2	cofactor; Escherichia coli metabolite; human metabolite; mouse metabolite; prosthetic group
propylthiouracil Propylthiouracil: A thiourea antithyroid agent. Propythiouracil inhibits the synthesis of thyroxine and inhibits the peripheral conversion of throxine to tri-iodothyronine. It is used in the treatment of hyperthyroidism. (From Martindale, The Extra Pharmacopeoia, 30th ed, p534). 6-propyl-2-thiouracil : A pyrimidinethione consisting of uracil in which the 2-oxo group is substituted by a thio group and the hydrogen at position 6 is substituted by a propyl group.	2.37	2	pyrimidinethione	antidote to paracetamol poisoning; antimetabolite; antioxidant; antithyroid drug; carcinogenic agent; EC 1.14.13.39 (nitric oxide synthase) inhibitor; hormone antagonist
nadp [no description available]	2.13	1
thionicotinamide adenine dinucleotide [no description available]	1.95	1
naphthoquinones Naphthoquinones: Naphthalene rings which contain two ketone moieties in any position. They can be substituted in any position except at the ketone groups.	6.99	1
arsenic Arsenic: A shiny gray element with atomic symbol As, atomic number 33, and atomic weight 75. It occurs throughout the universe, mostly in the form of metallic arsenides. Most forms are toxic. According to the Fourth Annual Report on Carcinogens (NTP 85-002, 1985), arsenic and certain arsenic compounds have been listed as known carcinogens. (From Merck Index, 11th ed)	7.67	3	metalloid atom; pnictogen	micronutrient
cysteine Cysteine: A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.. L-cysteinium : The L-enantiomer of cysteinium.. cysteine : A sulfur-containing amino acid that is propanoic acid with an amino group at position 2 and a sulfanyl group at position 3.	2.67	3	cysteinium	fundamental metabolite
beta-escin [no description available]	2.41	1
nad NAD(1-) : An anionic form of nicotinamide adenine dinucleotide arising from deprotonation of the two OH groups of the diphosphate moiety.	9	14	organophosphate oxoanion	cofactor; human metabolite; hydrogen acceptor; Saccharomyces cerevisiae metabolite
ubiquinone Ubiquinone: A lipid-soluble benzoquinone which is involved in ELECTRON TRANSPORT in mitochondrial preparations. The compound occurs in the majority of aerobic organisms, from bacteria to higher plants and animals.	2.02	1
triiodothyronine, reverse Triiodothyronine, Reverse: A metabolite of THYROXINE, formed by the peripheral enzymatic monodeiodination of T4 at the 5 position of the inner ring of the iodothyronine nucleus.. 3,3',5'-triiodo-L-thyronine zwitterion : Zwitterionic form of 3,3',5'-triiodo-L-thyronine.	1.96	1	3,3',5'-triiodothyronine; amino acid zwitterion
dicumarol Dicumarol: An oral anticoagulant that interferes with the metabolism of vitamin K. It is also used in biochemical experiments as an inhibitor of reductases.	1.96	1	hydroxycoumarin	anticoagulant; EC 1.6.5.2 [NAD(P)H dehydrogenase (quinone)] inhibitor; Hsp90 inhibitor; vitamin K antagonist
folic acid folcysteine: used to promote fertility in chickens. vitamin B9 : Any B-vitamin that exhibits biological activity against vitamin B9 deficiency. Vitamin B9 refers to the many forms of folic acid and its derivatives, including tetrahydrofolic acid (the active form), methyltetrahydrofolate (the primary form found in blood), methenyltetrahydrofolate, folinic acid amongst others. They are present in abundance in green leafy vegetables, citrus fruits, and animal products. Lack of vitamin B9 leads to anemia, a condition in which the body cannot produce sufficient number of red blood cells. Symptoms of vitamin B9 deficiency include fatigue, muscle weakness, and pale skin.	2.05	1	folic acids; N-acyl-amino acid	human metabolite; mouse metabolite; nutrient
5,10-methylenetetrahydrofolic acid 5,10-methylenetetrahydrofolic acid: RN refers to parent cpd(L-Glu)-isomer	2.05	1	benzamides; methylenetetrahydrofolic acid
5,6,7,8-tetrahydrofolic acid 5,6,7,8-tetrahydrofolic acid: RN given refers to (DL)-isomer	2.05	1	tetrahydrofolic acid
aluminum tetrasulfophthalocyanine [no description available]	1.99	1
phenanthrenes Phenanthrenes: POLYCYCLIC AROMATIC HYDROCARBONS composed of three fused BENZENE rings.. phenanthrenes : Any benzenoid aromatic compound that consists of a phenanthrene skeleton and its substituted derivatives thereof.	1.98	1

Condition	Relationship Strength	Studies
Cancer of Stomach [description not available]	2.41	1
Stomach Neoplasms Tumors or cancer of the STOMACH.	2.41	1
Benign Neoplasms [description not available]	3.23	1
Neoplasms New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.	3.23	1
Genetic Predisposition [description not available]	2.05	1
Muscular Weakness [description not available]	2.05	1
Light Sensitivity [description not available]	2.05	1
Lactic Acidosis [description not available]	2.05	1
Ptosis, Eyelid [description not available]	2.05	1
BCKD Deficiency [description not available]	2.05	1
Ataxia with Lactic Acidosis [description not available]	2.05	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.	2.05	1
Blepharoptosis Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.	2.05	1
Maple Syrup Urine Disease An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)	2.05	1
Pyruvate Dehydrogenase Complex Deficiency Disease An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.	2.05	1
Muscle Weakness A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)	2.05	1
Injury, Myocardial Reperfusion [description not available]	2	1

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