deficiency

(Rac)-Arnebin 1 (beta, beta-dimethylacrylshikonin) has anti-tumor, anti-inflammatory, anti-immune deficiency and protecting liver.

Methyl acetylacetate (Methyl acetoacetate) has been identified in the urine of patients with an inherited deficiency of propionyl-CoA carboxylase, and after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.

2'-Deoxyinosine (Guanine deoxyriboside) inhibits the growth of human colon-carcinoma cell lines and is associated with purine nucleoside phosphorylase (PNP) deficiency.

Levomefolic Acid (5-MTHF) is a natural, active form of folic acid used at the cellular level for DNA reproduction, the cysteine cycle and the regulation of homocysteine among other functions. Levomefolinic acid is used as a treatment and to prevent Folate Deficiency

Malonic acid (propanedioic acid) is the archetypal example of a competitive inhibitor: it acts against succinate dehydrogenase (complex II) in the respiratory electron transport chain. Malonic acid is found to be associated with malonyl-CoA decarboxylase deficiency, which is an inborn error of metabolism.

Glycerol or glycerin is a colourless, odourless, viscous liquid that is sweet-tasting and mostly non-toxic. It is widely used in the food industry as a sweetener and humectant and in pharmaceutical formulations. Glycerol is an important component of trigl

5'-Guanylic acid disodium salt (GMP-5) belongs to the class of organic compounds known as purine ribonucleoside monophosphates. In particular, L-Glutamic acid and guanosine monophosphate can be biosynthesized from xanthylic acid and L-glutamine; which is catalyzed by the enzyme GMP synthase [glutamine-hydrolyzing]. In addition, Guanosine triphosphate and guanosine monophosphate can be biosynthesized from diguanosine tetraphosphate; which is catalyzed by the enzyme bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]. In humans, guanosine monophosphate is involved in the kanamycin action pathway, the telithromycin action pathway, the tobramycin action pathway, and the erythromycin action pathway. Guanosine monophosphate is also involved in several metabolic disorders, some of which include the AICA-ribosiduria pathway, adenosine deaminase deficiency, adenine phosphoribosyltransferase deficiency (aprt), and the 2-hydroxyglutric aciduria (D and L form) pathway. Outside of the human body, guanosine monophosphate can be found in a number of food items such as onion-family vegetables, millet, chinese water chestnut, and red rice. This makes guanosine monophosphate a potential biomarker for the consumption of these food products.

1. Thymidine (DThyd) overload due to Thymidine phosphorylase deficiency, and mitochondrial toxicity caused by antiviral Thymidine analogues.

Folic acid (Vitamin B9)(Vitamin M; Vitamin B9) is indispensable for the production and maintenance of new cells, for DNA/RNA synthesis.

Pyruvic acid (Acetylformic acid) is an intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures.

Isotaxiresinol prevents d-GalN/LPS-induced hepatic injury by inhibiting hepatocyte apoptosis through the blocking of TNF-alpha and IFN-gamma production by activated macrophages and direct inhibition of the apoptosis induced by TNF-alpha. Isotaxiresinol ma

L-Arabinitol (L-(-)-Arabitol) is a potential biomarker for the comsuption of the food products such as sweet potato, deerberry, moth bean. L-Arabinitol is associated with Alzheimer's disease and ribose-5-phosphate isomerase deficiency.

Succinyladenosine is a biochemical marker of adenylosuccinase (ASL) deficiency. It is formed through the dephosphorylation of intracellular adenylosuccinic acid (S-AMP) by cytosolic 5-nucleotidase [1].

Hydroxocobalamin monohydrochloride is an injectable naturally occurring form of vitamin B12. It is used as a dietary supplement in the treatment of vitamin B12 deficiency including pernicious anemia.

Lyso-globotriaosylceramide is a form of globotriaosylceramide that is lacking the fatty acyl group. It binds to Shiga toxin 1 (Stx1) in the presence of cholesterol and phosphatidylcholine but does not bind Stx2. It also reduces viability and aggregation of human neutrophils induced by phorbol 12-myristate 13-acetate when used at concentrations of 50 and 1 μM, respectively. Lyso-globotriaosylceramide accumulates in the brain, heart, kidney, liver, lung, and spleen in a mouse model of Fabry disease, a lysosomal storage disorder characterized by a deficiency in the enzyme α-galactosidase A. It also accumulates in the urine, kidney, and plasma of patients with Fabry disease. Lyso-globotriaosylceramide levels decrease in response to administration of the α-galactosidase inhibitor 1-deoxygalactonojirimycin in a transgenic mouse model of Fabry disease. Decreases in plasma and urine concentrations of lyso-globotriaosylceramide have been used as a biomarker for efficacy of enzyme replacement therapy (ERT) and other therapies in the treatment of Fabry disease.

Ethylmalonic acid is potentially toxic, non-carcinogenic, and has been associated with anorexia nervosa and methoxy decarboxylase deficiency.

Methylglutaric acid is a leucine metabolite. A large amount of methylglutaric acid is identified in urine of patients with deficiency of 3-methylglutaconyl coenzyme A hydratase (PMID 6181239 ). Methylglutaric acid is also found to be associated with 3-hyd

Mead acid, also known as 5,8,11-Eicosatrienoic acid, is an unsaturated fatty acid belonging to the Omega-9 series. It serves as an indicator of deficiency in essential fatty acids.

Dopamine 3-O-sulfate, primarily found in plasma, serves as a biomarker for identifying aromatic amino acid decarboxylase (AADC) deficiency [1].

Hydroxocobalamin (Vitamin B12a) is a naturally occurring, injectable form of vitamin B12 used as a dietary supplement to treat B12 deficiency, including pernicious anemia, and is known for its favorable adverse effect profile [1] [2].

Tetradecanoylcarnitine (L-Myristoylcarnitine) is an acylcarnitine involved in the beta-oxidation of long-chain fatty acids, and is a potential marker for very-long-chain coenzyme A dehydrogenase deficiency. alpha-Dihydroartemisinin is a potent and selective inhibitor with multiple targets.

4-Hydroxyphenylpyruvic acid is an enzyme inhibitor.4-Hydroxyphenylpyruvic acid (4-HPPA) is a keto acid that is involved in the tyrosine catabolism pathway. It is a product of the enzyme (R)-4-hydroxyphenyllactate dehydrogenase (EC 1.1.1.222) and is formed during tyrosine metabolism. The conversion from tyrosine to 4-HPPA is catalyzed by tyrosine aminotransferase. Additionally, 4-HPPA can be converted to homogentisic acid which is one of the precursors to ochronotic pigment. The enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) catalyzes the reaction that converts 4-hydroxyphenylpyruvic acid to homogentisic acid. A deficiency in the catalytic activity of HPD is known to lead to tyrosinemia type III, an autosomal recessive disorder characterized by elevated levels of blood tyrosine and massive excretion of tyrosine derivatives into urine. It has been shown that hawkinsinuria, an autosomal dominant disorder characterized by the excretion of 'hawkinsin,' may also be a result of HPD deficiency . Moreover, 4-hydroxyphenylpyruvic acid is also found to be associated in phenylketonuria, which is also an inborn error of metabolism. There are two isomers of HPPA, specifically 4HPPA and 3HPPA, of which 4HPPA is the most common.

Ureidopropionic acid (3-Ureidopropionic acid) is an intermediate in the metabolism of uracil. More specifically it is a breakdown product of dihydrouracil and is produced by the enzyme dihydropyrimidase. It is further decomposed to beta-alanine via the enzyme beta-ureidopropionase. Ureidopropionic acid is essentially a urea derivative of beta-alanine. High levels of Ureidopropionic acid are found in individuals with beta-ureidopropionase (UP) deficiency. Enzyme deficiencies in pyrimidine metabolism are associated with a risk for severe toxicity against the antineoplastic agent 5-fluorouracil.

5'-Guanylic acid (5'-guanosine monophosphate) is involved in several metabolic disorders, including AICA-ribosiduria pathway, adenosine deaminase deficiency,adenine phosphoribosyltransferase deficiency (aprt), and the 2-hydroxyglutric aciduria pathway.

N-Acetyl-L-glutamic acid (Ac-L-Glu-OH) (NAcGlu) is an acetylated amino acid. NAcGlu is biosynthesized from glutamic acid and acetyl-CoA by the enzyme N-acetyl glutamate synthase (NAGS). NAcGlu activates carbamoyl phosphate synthetase in the urea cycle. A deficiency in N-acetyl glutamate synthase or a genetic mutation in the gene coding for the enzyme will lead to urea cycle failure in which ammonia is not converted to urea, but rather accumulated in the blood leading to the condition called Type I hyperammonemia.

2,8-Dihydroxyadenine, an endogenous metabolite, can induce the generation of urinary crystals and nephrolithiasis. Moreover, 2,8-Dihydroxyadenine serves as a diagnostic tool for detecting adenine phosphoribosyltransferase (APRT) deficiency.

(S)-Malic acid ((S)-2-Hydroxysuccinic acid) is a tart-tasting organic dicarboxylic acid that plays a role in many sour or tart foods. Apples contain malic acid, which contributes to the sourness of a green apple. Malic acid can make a wine taste tart, although the amount decreases with increasing fruit ripeness. (wikipedia). In its ionized form malic acid is called malate. Malate is an intermediate of the TCA cycle along with fumarate. It can also be formed from pyruvate as one of the anaplerotic reactions. In humans, malic acid is both derived from food sources and synthesized in the body through the citric acid cycle or Krebs cycle which takes place in the mitochondria. Malate's importance to the production of energy in the body during both aerobic and anaerobic conditions is well established. Under aerobic conditions, the oxidation of malate to oxaloacetate provides reducing equivalents to the mitochondria through the malate-aspartate redox shuttle. During anaerobic conditions, where a buildup of excess of reducing equivalents inhibits glycolysis, malic acid's simultaneous reduction to succinate and oxidation to oxaloacetate is capable of removing the accumulating reducing equivalents. This allows malic acid to reverse hypoxia's inhibition of glycolysis and energy production. In studies on rats it has been found that only tissue malate is depleted following exhaustive physical activity. Other key metabolites from the citric acid cycle needed for energy production were found to be unchanged. Because of this, a deficiency of malic acid has been hypothesized to be a major cause of physical exhaustion. Notably, the administration of malic acid to rats has been shown to elevate mitochondrial malate and increase mitochondrial respiration and energy production.

Homovanillic acid (Vanillacetic acid) is a dopamine metabolite found to be associated with aromatic L-amino acid decarboxylase deficiency, growth hormone deficiency, celiac disease, and sepiapterin reductase deficiency.

N-(3-Phenylpropionyl)glycine (Phenylpropionylglycine) is an acyl glycine. Acyl glycines are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. Acyl glycines are produced through the action of glycine N-acyltransferase which is an enzyme that catalyzes the chemical reaction:acyl-CoA + glycine < - > CoA + N-acylglycineThe detection of phenylpropionylglycine in urine after an oral load of phenylpropionic acid can be used to diagnose deficiency of medium-chain acyl-CoA dehydrogenase, a frequent and treatable metabolic defect.

Cyanocobalamin is a cobalt-containing coordination compound generated by intestinal microbes and a natural water-soluble vitamin of the B-complex family that must combine with Intrinsic Factor for absorption by the intestine. Cyanocobalamin is necessary for hematopoiesis, neural metabolism, DNA, and RNA production, and carbohydrate, fat, and protein metabolism. B12 improves iron functions in the metabolic cycle and assists folic acid in choline synthesis. B12 metabolism is interconnected with that of folic acid. Vitamin B12 (Cobalamin) deficiency causes pernicious anemia, megaloblastic anemia, and neurologic lesions.

L-Allothreonine (L-allo-Threonine) is an essential amino acid in humans. L-Allothreonine is abundant in human plasma, particularly in newborns. Severe deficiency of threonine causes neurological dysfunction and lameness in experimental animals. L-Allothreonine is an immunostimulant which promotes the growth of thymus gland. L-Allothreonine also can probably promote cell immune defense function. L-Allothreonine is highly concentrated in meat products, cottage cheese, and wheat germ.

Acetyl-L-lysine (Nα-Acetyl-L-lysine) is a N-acetylated amino acid. It is a normal constituent of human urine with concentrations in normal samples too small to allow its routine detection; however, it has been found at increased levels in the urine of a patient with aminoacylase I deficiency.

L-Dihydroorotic acid, also known as (S)-4,5-dihydroorotate or dihydro-L-orotate, belongs to the class of organic compounds known as alpha amino acids and derivatives. Within the cell, L-dihydroorotic acid is primarily located in the cytoplasm and mitochon

3-Amino-2-methylpropanoic acid (α-Methyl-β-alanine) is the product from the conversion of N-carbamyl-beta-aminoisobutyric acid by the enzyme Beta-ureidopropionase (EC 3.5.1.6), the last step in pyrimidine degradation. Beta-ureidopropionase deficiency is an inborn error of pyrimidine degradation associated with neurological abnormalities.

3-Hydroxybutyric acid (Butanoic acid) (or beta-hydroxybutyrate) is a ketone body. Like the other ketone bodies (acetoacetate and acetone), levels of 3-hydroxybutyrate in blood and urine are raised in ketosis. In humans, 3-hydroxybutyrate is synthesized in the liver from acetyl-CoA and can be used as an energy source by the brain when blood glucose is low. Blood levels of 3-hydroxybutyric acid levels may be monitored in diabetic patients to look for diabetic ketoacidosis. Persistent mild hyperketonemia is a common finding in newborns. Ketone bodies serve as an indispensable source of energy for extrahepatic tissues, especially the brain and lung of developing mammals. Another important function of ketone bodies is to provide acetoacetyl-CoA and acetyl-CoA for the synthesis of cholesterol, fatty acids, and complex lipids. During the early postnatal period, acetoacetate (AcAc) and beta-hydroxybutyrate are preferred over glucose as substrates for synthesis of phospholipids and sphingolipids in accord with requirements for brain growth and myelination. Thus, during the first 2 weeks of postnatal development, when the accumulation of cholesterol and phospholipids accelerates, the proportion of ketone bodies incorporated into these lipids increases. On the other hand, an increased proportion of ketone bodies is utilized for cerebroside synthesis during the period of active myelination. In the lung, AcAc serves better than glucose as a precursor for the synthesis of lung phospholipids. The synthesized lipids, particularly dipalmitoylphosphatidylcholine, are incorporated into surfactant, and thus have a potential role in supplying adequate surfactant lipids to maintain lung function during the early days of life (PMID: 3884391 ). 3-Hydroxybutyric acid is found to be associated with fumarase deficiency and medium-chain acyl-CoA dehydrogenase deficiency, which are inborn errors of metabolism.

3-Hydroxyisovaleric acid (Beta-Hydroxyisovaleric acid) is an endogenous metabolite excreted in the urine and can serve as an early and sensitive indicator of biotin deficiency.

Tetrahydro-11-deoxy cortisol (THS) is the primary urinary metabolite of 11-deoxycortisol. Urinary excretion of THS is elevated in patients with 11β-hydroxylase deficiency, a condition resulting from mutations in the cytochrome P450 (CYP) isoform CYP11B1. Urinary levels of THS are also elevated in patients with adrenocortical carcinoma (ACC) and adrenocortical adenoma (ACA) but are higher in patients with ACC compared to ACA.

Suberic acid (1,8-Octanedioic acid) is present in the urine of patients with fatty acid oxidation disorders. A metabolic breakdown product derived from oleic acid. Elevated levels of this unstaruated dicarboxylic acid are found in individuals with medium-chain acyl-CoA dehydrogenase deficiency (MCAD). Suberic acid is also associated with carnitine-acylcarnitine translocase deficiency, malonyl-Coa decarboxylase deficiency.

Pyridoxal phosphate (Vitamin B6 phosphate) is the active form of vitamin B6 and a coenzyme for many pyridoxal phosphate (PLP)-dependent enzymes. PLP is involved in numerous enzymatic transamination, decarboxylation and deamination reactions; it is necessary for the synthesis of amino acids and amino acid metabolites, and for the synthesis and/or catabolism of certain neurotransmitters, including the conversion of glutamate into gamma-aminobutyric acid (GABA) and levodopa into dopamine. PLP can be used as a dietary supplement in cases of vitamin B6 deficiency. Reduced levels of PLP in the brain can cause neurological dysfunction.

Tiglyl carnitine is associated with lung cancer and carnitine and glycine to 3-ketothiolase deficiency .

Succinyl-Coenzyme A sodium salt(Succinyl-CoA sodium salt) participates in the citric acid cycle, where it is converted to succinic acid.Succinyl-Coenzyme A (sodium salt) is involved in a variety of metabolic reactions in living organisms, and plays an important role in the body.Succinyl-Coenzyme A (sodium salt) is involved in heme synthesis. Succinyl-Coenzyme A (sodium salt) is involved in the synthesis of hemoglobin and is used in the study of metabolic, neurological, and hematological disorders caused by nutritional vitamin B12 deficiency, which results in a deficiency in Succinyl-Coenzyme A synthesis.

Zinc sulfate heptahydrate is a dietary supplement used for zinc deficiency and to prevent the condition in those at high risk.

L-Leucine ((S)-Leucine) is one of nine essential amino acids in humans (provided by food), L-Leucine is important for protein synthesis and many metabolic functions. L-Leucine contributes to regulation of blood-sugar levels; growth and repair of muscle and bone tissue; growth hormone production; and wound healing. L-Leucine also prevents breakdown of muscle proteins after trauma or severe stress and may be beneficial for individuals with phenylketonuria. L-Leucine is available in many foods and deficiency is rare.

Axillaridine A is a new cholinesterase inhibitors, it may act as potential leads in the discovery of clinically useful inhibitors for nervous-system disorders, particularly by reducing memory deficiency in Alzheimer's disease patients by potentiating and

Ethylmalonic acid is potentially toxic, non-carcinogenic, and has been associated with anorexia nervosa and methoxy decarboxylase deficiency.

Potassium erythronate is an intrinsic carbohydrate metabolite utilized in researching metabolic diseases. It significantly influences the development and mitigation of hyperuricemia and associates with mitochondrial dysfunction in transaldolase deficiency [1].

Hemin (Hemin chloride) is a chlorinated iron-containing porphyrin, a heme oxygenase (HO)-1 inducer. Hemin has therapeutic activity in porphyrias by reducing heme deficiency in patients, thereby inhibiting δ-aminolevulinic acid synthetase activity through biochemical feedback.

3-Hydroxyglutaric acid is one of several metabolites produced when insufficient levels of GCDH are available. It is used as a biomarker of GCDH deficiency.

Mulberrofuran Q is an active compound that inhibits the formation of 12-hydroxy-5,8,10-heptadecatrienoic acid (HHT) and thromboxane B2 (cyclooxygenase product) , which protects neuronal cells from hypoxia-glycorrhoea-deficiency (OGD)-induced oxidative stress.

Methylmalonic acid is an indicator of vitamin B-12 deficiency in cancer patients.Methylmalonic acid is a competitive succinate dehydrogenase inhibitor.