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خرید پکیج
تعداد ایتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Abnormal metabolites

Abnormal metabolites
Disorder Abnormal metabolite(s)*
Organic acidemias
Methylmalonic acidemia Methylmalonic and methylcitric acids
Propionic acidemia 3-hydroxypropionic acid, propionylglycine, methylcitric acid
Isovaleric acidemia Isovalerylglycine
Glutaric acidemia type I Glutaric, 3-hydroxyglutaric, dicarboxylic acids, and acylglycine
3-methylglutaconic aciduria 3-methylglutaconic acid
2-hydroxy-3-methylbutyryl-CoA dehydrogenase deficiency 2-hydroxy-3-methylblutyric acid, tiglyglycine, 2-ethylhydracrylic acid
2-hydroxyglutaric aciduria 2-hydroxyglutaric acid
Disorders of ketogenesis
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency Hexanoylglycine and suberylglycine
3-ketothiolase deficiency 2-hydroxy-3-methylbutyric acid, tiglyglycine, 2-methyl-3-hydroxyacetoacetic acid
3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-methylglutaconic acids
Other disorders
Canavan disease N-acetylaspartic acid
Glutaric acidemia type II (multiple acyl-CoA dehydrogenase deficiency) Glutaric and 2-hydroxyglutaric acids
Mevalonate kinase deficiency Mevalonic acid
Maple syrup urine disease 2-hydroxyisovaleric, 2-hydroxy-3-methylvaleric, and 2-ketoisocaproic acids
Phenylketonuria Phenylpyruvic and phenyllactic acids
Fumarase deficiency Fumaric acid
Glutathione synthetase deficiency 5-oxoproline (pyroglutamic acid)
Biotinidase deficiency 3-hydroxyisovaleric acid, methylcitric acid, 3-methylcrotonylglycine, propionylglycine
Holocarboxylase synthetase deficiency 3-hydroxyisovaleric acid, methylcitric acid, 3-methylcrotonylglycine, propionylglycine
Glycerol kinase deficiency Glycerol
Ethylmalonic encephalopathy Ethylmalonic and methylsuccinic acids
Disorders of uncertain consequence
3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonylglycine
Short chain acyl-CoA dehydrogenase deficiency Ethylmalonic acid, butyrylglycine
* Other abnormal metabolites may be seen in these disorders, but these listed are the most characteristic for the diagnosis.
¶ Diagnosis by urine organic acid analysis is unreliable.
Courtesy of V Reid Sutton, MD.
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