Diagnosis of Metabolic Disorders

Molecular Genetics Mutation Analysis in the Diagnosis of Metabolic Disorders... 

T4. Tocci, P. M., The biochemical diagnosis of metabolic disorders by urinalysis and paper chromatography. In Amino Acid Metabolism and Genetic Variation (W. L. Nyhan, ed.), pp. 461-490. McGraw-Hill, New York, 1967. 

The answer is a. (Murray, pp 259-267. Scriver, pp 3827-3876. Sack, pp 97—158. Wilson, pp 287-320.) Most enzymes are expressed in chorionic villi or amniocytes and allow prenatal diagnosis of metabolic disorders through cell culture and enzyme assay. Percutaneous umbilical blood sampling (PUBS), or cordocentesis, offers another strategy if the enzyme is normally present in leukocytes. However, transabdominal aspiration of the umbilical cord is difficult and must be performed later in pregnancy (18-1-weeks) than CVS (8 to 10 weeks). OC-fetoprotein (AFP) is not known to be involved in any metabolic disorders, but it is used as an index of fetal tissue differentiation and integrity. Amniotic or maternal serum OC-fetoprotein (MSAFP) is most often used to detect, respectively, neural tube defects or... 

Determination of active substances and their metabohtes in biological matrices, diagnosis of metabolic disorders such as PKU (phenylketomuia), cystimuia and maple syrup disease in babies. 

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