Browsing Search Results

Matched Description: -hydroxybutyric acid, 3-hydroxyglutaric acid, glutaconic acid, glutaric acid, and ketone bodies in … urine. Symptoms include encephalopathy, grimacing, dystonia, metabolic acidosis, and hygroma. Treatment … includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants.

Matched Protein Synonyms: Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase … Dehydrogenase E1 and transketolase domain-containing protein 1

Matched Compound Synonyms: H-lys-oh … 3-oh-butyryl-coa … 3-oh-butyryl-coenzyme a … H-lys-oh … H-lys-oh

Matched Description: -ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic … then cleaved to alpha-aminoadipic semialdehyde and glutamic acid by saccharopine dehydrogenase … of most proteins. Pipecolic acid can also be increased in serum and urine, while ornithine is … vomiting, and diarrhea. For the vast majority of people, hyperlysinemia typically causes no health … problems, and most people with elevated lysine levels are unaware that they have this condition.

Matched Protein Synonyms: Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase … Dehydrogenase E1 and transketolase domain-containing protein 1

Matched Compound Synonyms: H-lys-oh … 3-oh-butyryl-coa … 3-oh-butyryl-coenzyme a … H-lys-oh … H-lys-oh

Matched Description: deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the … responsible for the beta-oxidation of 3-hydroxyhexanoyl-CoA and 3-hydroxybutyryl-CoA into 3 … -oxohexanoyl-CoA and acetoacetyl-CoA respectively. Symptoms of HADH deficiency include hypoglycemia, as well as … vomiting, diarrhea and seizures. Treatment with diazoxide, a potassium channel activator, has been

Matched Protein Synonyms: Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase … Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase

Matched Compound Synonyms: 3-oh-butyryl-coa … 3-oh-butyryl-coenzyme a

Matched Description: cell membranes, and contrary to phosphatidylcholine, it is concentrated with phosphatidylserine in … clarity. Instead, they are indicated with a dark green colour and appear to be free floating in the … dehydrogenase [NAD(+)] catalyzes the interconversion of glycerone phosphate (from glycolysis) and glycerol 3 … catalyzes the synthesis of phosphatidylserine from L-serine and a CDP-diacylglycerol. Last

Matched Compounds: DG(20:1(11Z)/20:1(13Z)/0:0) … PE(20:1(11Z)/20:1(13Z)) … PA(20:1(11Z)/20:1(13Z)) … LysoPA(20:1(11Z)/0:0) … CDP-DG(20:1(11Z)/20:1(13Z))

Matched Compound Synonyms: Dg(20:1/20:1) … Dg(20:1n9/20:1n7) … Dg(20:1w9/20:1w7) … Dag(20:1(11z)/20:1(13z)) … Dag(20:1/20:1)

Matched Description: -hydroxybutyric acid, 3-hydroxyglutaric acid, glutaconic acid, glutaric acid, and ketone bodies in … urine. Symptoms include encephalopathy, grimacing, dystonia, metabolic acidosis, and hygroma. Treatment … includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants.

Matched Protein Synonyms: Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase … Dehydrogenase E1 and transketolase domain-containing protein 1

Matched Compound Synonyms: H-lys-oh … 3-oh-butyryl-coa … 3-oh-butyryl-coenzyme a … [oh(oh)] … H-lys-oh

Matched Description: ) and autosomal recessive disorder caused by a defective BCKDHA, BKCDHB or DBT gene. These genes code … , isoleucine and valine. This disorder is characterized by a large accumulation of these amino acids … , lethargy, abnormal movements and delayed development. Treatment includes long-term dietary management

Matched Protein Synonyms: Sodium- and chloride-dependent neurotransmitter transporter NTT73 … Sodium- and chloride-dependent neurotransmitter transporter NTT73

Matched Compound Synonyms: [co2(oh)](-) … [co2(oh)](-) … [co2(oh)](-) … [oh(oh)]

Matched Description: the chemical reaction where the two substrates are beta-carotene and O2, whereas its product is … retinal. A defect in this enzyme results in decrease of levels of retinal and vitamin A in serum; Signs … and symptoms include night blindness, poor adaptation to darkness, dry skin and hair.

Matched Protein Synonyms: All-trans and 9-cis retinol dehydrogenase … PPAR-alpha-regulated and starvation-induced gene protein

Matched Compound Synonyms: 4-oh-retinoate … 4-oh-retinoic acid

Matched Description: pseudohermaphroditism with gynecomastia (MPH), is as rare inborn error of metabolism (IEM) and autosomal … recessive disorder of the androgen and estrogen metabolism pathway. It is caused by a mutation in the … accumulation of androstenedione and dehydroepiandrosterone in the body, as well as a lack of testosterone … puberty, where testosterone is produced outside of the gonads. Symptoms include infertility and external

Matched Protein Synonyms: 20 alpha-hydroxysteroid dehydrogenase … 20-alpha-HSD

Matched Compound Synonyms: 17-oh progesterone … (3beta)-3,17-dihydroxypregn-5-en-20-one … 5-pregnen-3beta,17alpha-diol-20-one … (3b)-3,17-dihydroxypregn-5-en-20-one … (3β)-3,17-dihydroxypregn-5-en-20-one

Matched Description: Aromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of … converts androgens to estrogens which is vital for bone growth and regulation of blood sugar levels … . Symptoms of decrease in estrogen and increase androgens such as testosterone can cause impaired female … sexual development, unusual bone growth, insulin resistance, and a variety of other symptoms. It … presents with virilization of pregnant mothers during the antenatal period, and virilization of female

Matched Protein Synonyms: 20 alpha-hydroxysteroid dehydrogenase … 20-alpha-HSD

Matched Compound Synonyms: 17-oh progesterone … (3beta)-3,17-dihydroxypregn-5-en-20-one … 5-pregnen-3beta,17alpha-diol-20-one … (3b)-3,17-dihydroxypregn-5-en-20-one … (3β)-3,17-dihydroxypregn-5-en-20-one

Matched Description: Retinol is part of the vitamin A family, and is known as vitamin A1, and in a dietary context it is … sources, with the highest concentrations coming from animal liver, with other sources being fish and … acid form, and reinyl ester, its ester form. Additionally, herbivores and omnivores can obtain … provitamin A from things such as alpha-, beta- and gamma-carotene, which can be converted to retinol as … -acyltransferase 1 and acyl-CoA wax akcohol acyltransferase 1 which both use acetyl-CoA as a reactant and

Matched Protein Synonyms: All-trans and 9-cis retinol dehydrogenase … PPAR-alpha-regulated and starvation-induced gene protein

Matched Compound Synonyms: 4-oh-retinoate … 4-oh-retinoic acid