Hepatic Phenylalanine Hydroxylase and Dietary Tolerance in Hyperphenylalaninaemic Patients View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1986

AUTHORS

C. Largilliere , J. L. Dhondt , J. P. Farriaux

ABSTRACT

Since the development of neonatal screening for hyperphenylalaninaemic syndromes and of dietary management, heterogeneity of the disease has become evident. In most inborn errors of metabolism a direct enzyme assay is considered necessary to confirm the diagnosis. However, in hyperphenylalaninaemic syndromes this practice is not usual. Some authors have claimed that the measurement of liver phenylalanine hydroxylase activity (PAH) (EC 1.14.16.1) is necessary not only for a firm diagnosis of phenylketonuria (PKU) but also to provide information about the degree of dietary control which would be required for an optimum intellectual development (Berry et al., 1982). On the other hand, other authors did not find an advantage in this practice (Danks and Cotton, 1983). More... »

PAGES

209-211

Book

TITLE

Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia

ISBN

978-94-010-8332-4
978-94-009-4131-1

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-94-009-4131-1_26

DOI

http://dx.doi.org/10.1007/978-94-009-4131-1_26

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1018248654


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