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Matched Description: dehydrogenase, which catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate … semialdehydes to acetyl- and propionyl-CoA, respectively. A defect in methylmalonate semialdehyde … dehydrogenase causes accumulation of 3-Aminoisobutyric acid, 3-Hydroxyisobutyric acid, 3-hydroxypropionic … acid, beta-Alanine, lactate, and methylmalonic acid in urine. Symptoms include failure to thrive … , large liver, mental and motor retardation and vomiting.

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber

Matched Description: of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Another possible cause … . Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay, dysmorphic facial … features, and brain abnormalities. The excretion of 3-hydroxyisobutyric acid in the urine can range … from 170 to 390 mmol/mol of creatinine. Concentrations of free carnitine are also low, and esterified … carnitine can be elevated in patients. Protein-restricted diets and carnitine supplementation have been tried with varying degrees of success.

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber

Matched Description: is usually a history of poor feeding, vomiting, lethargy, and seizures. In the acute form, metabolic … isovaleryl-CoA dehydrogenase. It is characterized by a build-up of isovaleric acid in the blood and … phenotypes of IVA: (1) an acute form and (2) a late-onset form. The acute form manifests as … catastrophic disease in the newborn period and infants become extremely sick in the first week of life. There … chronic, intermittent episodes of metabolic decompensation. The degree of isovaleryl-CoA

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber

Matched Description: . A deficiency in this enzyme results in accumulation of ammonia and ketone bodies in blood; and 2 … -methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, 3-hydroxybutyric acid, tiglylglycine, and … ketone bodies in urine. Symptoms include ketosis, seizures, organic acids in urine, and hyperammonemia … . Treatment includes a low protein diet and L-carnitine.h3. h2.

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber

Matched Description: , isoleucine and valine. This disorder is characterized by a large accumulation of these amino acids … Maple syrup urine disease, also called BCKD deficiency, is a rare inborn error of metabolism (IEM … ) and autosomal recessive disorder caused by a defective BCKDHA, BKCDHB or DBT gene. These genes code … for a protein which is vital in the breakdown of amino acids, specifically the amino acids leucine … in the body. Symptoms of the disorder include a distinct maple syrup smell of the urine, vomiting

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber

Matched Description: mutase causes accumulation of ammonia in blood; methylmalonic acid in plasma; creatinine and uric acid in … anemia, dehydration, growth retardation, nephrosis, respiratory distress and metabolic acidosis. … , methylmalonic; MMA) in the metabolic pathway where methylmalonyl-coenzyme A (CoA) is converted … , methylcitric acid and methylmalonic acid in urine; and methylmalonic acid in spinal fluid. Symptoms include

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber

Matched Description: the third step in the breakdown of valine and converts isobutyryl-CoA into methylacrylyl-CoA. Defects … in the IBD enzyme function lead to elevated levels of valine in blood and other biofluids … . This condition may also result in low numbers of red blood cells (anemia) and very low levels of … energy. Treatment may include the use of L-carnitine supplements, frequent meals, and a low-valine diet. … error of metabolism (IEM) of valine metabolism. It is an autosomal recessive disorder that is caused

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber

Matched Description: results in accumulation of 3-hydroxymethylglutaric acid, 3-hydroxyisovaleric acid, 3-methylcrotonylglycine … and 3-methylglutaconic acid (cis and trans form), and methylglutaric acid in urine; and ammonia in … blood. Symptoms include cardiomyopathy, dehydration, hypotonia, lactic acidosis, and pancreatitis

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber

Matched Description: dehydrogenase, which catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate … semialdehydes to acetyl- and propionyl-CoA, respectively. A defect in methylmalonate semialdehyde … dehydrogenase causes accumulation of 3-Aminoisobutyric acid, 3-Hydroxyisobutyric acid, 3-hydroxypropionic … acid, beta-Alanine, lactate, and methylmalonic acid in urine. Symptoms inclue failure to thrive, large liver, mental and motor retardation and vomiting.

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber

Matched Description: of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Another possible cause … . Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay, dysmorphic facial … features, and brain abnormalities. The excretion of 3-hydroxyisobutyric acid in the urine can range … from 170 to 390 mmol/mol of creatinine. Concentrations of free carnitine are also low, and esterified … carnitine can be elevated in patients. Protein-restricted diets and carnitine supplementation have been tried with varying degrees of success.

Matched Proteins: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

Matched Protein Synonyms: Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex … Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex

Matched Compound Synonyms: Spirit of amber