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Chapter-11 Spot Tests

BOOK TITLE: An Easy Guide for Practical Biochemistry

Author
1. D’sa Divya Shanthi
2. Lakshmi Sowbhagya
ISBN
9789352702633
DOI
10.5005/jp/books/14203_12
Edition
2/e
Publishing Year
2018
Pages
7
Author Affiliations
1. Shimoga Institute of Medical Sciences, Shimoga, Karnataka, India, Subbaiah Institute of Medical Sciences, Shivamogga, Karnataka, India
2. Shimoga Institute of Medical Sciences, Shimoga, Karnataka, India, Sambhram Institute of Medical Sciences and Research, Kolar, Karnataka, India
Chapter keywords
Phenylketonuria, PKU, homocystinuria, Guthrie’s bacterial inhibition test, ferric chloride test, alkaptonuria, screening test

Abstract

Phenylketonuria (PKU) is an inherited metabolic disorder in amino acid metabolism. It is due to the deficiency of the enzyme, phenylalanine hydroxylase. Therefore, the conversion of phenylalanine to tyrosine is deficient, i.e. phenylalanine accumulates in the blood giving a concentration of 10–80 mg/dL compared with <2 mg/dL in normal infants. Among the derivatives of phenylalanine present in urine, the largest amounts are phenylpyruvic acid and phenyl lactic acid. The tests used for screening phenylketonuria are Guthrie’s Bacterial Inhibition Test, Ferric Chloride Test, and alkaptonuria are briefly discussed in this chapter.

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