Dried blood drop of an infant can be used to know:
ANS. BDried blood drop test:Advantage: Minimal volume, minimal training, ease of transport.Usedfor:* Phenylketonuria (PKU)* Galactosemia* Maple syrup urine disease (MSUD)* Sickle cell disease.Inborn errors of amino acid metabolism associated with peculiar odorInborn error in metabolismUrine odorGlutaric acidemia (Type II)Sweaty feet, acridIsovaleric acidemiaSweaty feet, acridMaple syrup urine diseaseMaple syrupHypermethioninemiaBoiled cabbageMultiple carboxylase deficiencyTomcat urinePhenylketonuriaMousy or mustyTrimethylaminuriaRotting fishTyrosinemiaBoiled cabbage, rancid butter# Rate limiting enzymes in metabolic pathways* Glycolysis--Phosphofructokinase 1* Citric acid/TCA cycle--Isocitrate dehydrogenase* Bile acid synthesis--7 alpha dehydroxylase* Cholesterol synthesis--HMG CoA reductase* Ketone body synthesis--HMG CoA synthase* Fatty acid synthesis--Acetyl CoA carboxylase* Fatty acid oxidation--Carnitine palmitoyltransferase 1* Urea cycle--Carbamoyl phosphate synthase 1* Pyrimidine synthesis--Carbamoyl phosphate synthetase 2* Purine synthesis--PRPP glutamyl amidotransferase* Heme synthesis--ALA synthase* Testosterone synthesis--Cholesterol desmolase* Catecholamine synthesis--Tyrosine hydroxylase
Blood sugar
Inborn errors of metabolism
Hepatitis
Cataract
Nutrition & Digestion