CBM 2000-4

Phenylketonuria (PKU): Screening

and Management

January 1980 through July 2000, plus selected earlier citations

3394 Citations

Prepared by

Karen Patrias, M.L.S., National Library of Medicine

Felix F. de la Cruz, M.D., M.P.H., National Institute of Child Health and Human Development

2000 September

U.S. DEPARTMENT OF HEALTH

 AND HUMAN SERVICES

Public Health Service

National Institutes of Health

National Library of Medicine

Reference Section

8600 Rockville Pike

Bethesda, Maryland 20894
ii

SERIES NOTE

Each bibliography in the Current Bibliographies in Medicine (CBM) series covers a distinct subject area of

biomedicine and is intended to fulfill a current awareness function. Citations are usually derived from searching a variety of

online databases. NLM databases utilized include MEDLINE®, BIOETHICSLINE®, HEALTHSTARTM,

LOCATORplus® , POPLINETM, PubMed®, and TOXLINE®. The only criterion for the inclusion of a particular published

work is its relevance to the topic being presented; the format, ownership, or location of the material is not considered.

Publications in the Current Bibliographies in Medicine series are available at no cost to anyone with Internet access

through the Library's World Wide Web site at http://www.nlm.nih.gov/pubs/resources.html.

Comments and suggestions on this series may be addressed to:

 Karen Patrias, Editor

 Current Bibliographies in Medicine

 Reference Section

 National Library of Medicine

 Bethesda, MD 20894

 Phone: 301-496-6097

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 Internet: ref@nlm.nih.gov

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iii

TABLE OF CONTENTS

page

Introduction v

Sample Citations vi

History and Classic Material 1

Overviews and Reviews 3

Ethics, Laws, and Policies 14

Economics and Socioeconomics 18

Classification 22

Incidence, Prevalence, and Demographics 23

Screening and Diagnosis 34

Isolation and Analysis 70

Genetics 83

Pathology and Physiopathlogy 126

Metabolism, Enzymology, and Biochemistry 147

Psychology, Neuropsychology, Sociology, and Behavior 203

Nutrition, Diet, and Diet Therapy 225

Drug Therapy 274

Other Therapies and Therapy in General 278

Maternal PKU 283

Animal, Plant, and Other Non-Human Studies 299
iv
v

INTRODUCTION

Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately

one of every 10,000 infants in the United States is born with PKU, which usually results from a deficiency of a liver enzyme

known as phenylalanine hydroxylase (PAH). This enzyme deficiency leads to elevated levels of the amino acid phenylalanine

in the bloodstream.

All infants in this country undergo blood testing for PKU. The current treatment for this disorder involves dietary

modification. When a very strict diet is begun early and maintained, children with PKU can expect normal development and

a normal lifespan. The diet generally excludes all high protein foods, such as meat, milk, eggs, and nuts, since all protein

contains phenylalanine. Dietary noncompliance can result in a decline in mental and behavioral performance. Women with

PKU must also maintain a strictly controlled diet before and during pregnancy to prevent fetal damage. Scientists are

actively exploring nondietary treatments for PKU.

This bibliography was prepared in support of the National Institutes of Health (NIH) Consensus Development Conference

titled Phenylketonuria (PKU): Screening and Management held in Bethesda, MD on October 16–18, 2000. It includes

citations to journal articles, books and book chapters, conference proceedings and conference papers, and dissertations

in all languages published primarily from January 1980 through July 2000. Works of historical significance and other selected

references from earlier years have also been included. Citations have been arranged by subject and then alphabetically by

author within each subject. A citation may appear under more than one subject. For example, a citation discussing the

economic aspects of screening for PKU would be found under both “Economics and Socioeconomics” and “Screening and

Diagnosis.”

The compilers wish to thank Ms. Twann Dailey of the National Library of Medicine for her assistance in the production of

this bibliography.

This publication is not copyrighted and may be freely reproduced. However any reproductions of this bibliography, in whole

or in part, should include all credits. If you wish to cite this bibliography, the correct format is:

Patrias, Karen; de la Cruz, Felix F., compilers. Phenylketonuria (PKU): screening and management [bibliography].

Bethesda (MD): National Library of Medicine (US); 2000 Sep. (Current bibliographies in medicine; no. 2000-4). 

3394 citations from January 1980 through July 2000, plus selected earlier citations.
vi

SAMPLE CITATIONS

Citations in this bibliographic series are formatted according to the rules established for Index Medicus®*. Sample journal

and monograph citations appear below. For journal articles written in a foreign language, the English translation of the title

is placed in brackets; for monographs, the title is given in the original language. In both cases the language of publication is

shown by a three letter abbreviation appearing at the end of the citation.

Journal Article:

 Authors Article Title

DiLella AG, Woo SL. Molecular basis of phenylketonuria and its clinical applications.

Mol Biol Med 1987 Aug;4(4):183-92.

 Abbreviated Journal Date Volume Issue Pages

 Title

Monograph:

 Authors/Editors Title

Demirkol M, Shin YS, editors. Diagnosis and treatment of inborn errors of metabolism.

Istanbul (Turkey): Turkish Society for PKU, Istanbul Branch; 1996. 233 p.

 Place of Publisher Date Total No.

 Publication of Pages

_________________________________

*For details of the formats used for references, see the following publication:

Patrias, Karen. National Library of Medicine recommended formats for bibliographic citation.

Bethesda (MD): The Library; 1991 Apr. Available from: NTIS, Springfield, VA; PB91-182030.
vii
1

History and Classic Material

Acuff KL, Faden RR. A history of prenatal and

newborn screening programs: lessons for the future.

In: Faden R, Geller G, Powers M, editors. AIDS,

women and the next generation. New York: Oxford

University Press; 1991. p. 59-93.

Ambrus CM, Ambrus JL, Horvath C, Pedersen H,

Sharma S, Kant C, Mirand E, Guthrie R, Paul T.

Phenylalanine depletion for the management of

phenylketonuria: use of enzyme reactors with

immobilized enzymes. Science 1978 Sep

1;201(4358):837-9.

Bartholome K, Lutz P. [Determination of

phenylalanine hydroxylase in patients with

phenylketonuria and hyperphenylalaninemia].

Monatsschr Kinderheilkd 1976 May;124(5):421-2.

(Ger).

Bessman SP. Historical perspective: tyrosine and

maternal phenylketonuria, welcome news [editorial].

Am J Clin Nutr 1998 Mar;67(3):357-8. Comment on:

Am J Clin Nutr 1998 Mar;67(3):473-6. Comment in:

Am J Clin Nutr 1998 Mar;67(3):488; Am J Clin Nutr

1998 Dec;68(6):1304-6.

Bickel H. Dietary restriction in inborn errors of amino

acid metabolism. Curr Concepts Nutr 1979;8:35-53.

Bickel H. [Early diagnosis of phenylketonuria].

Monatsschr Kinderheilkd 1966 Jan;114(1):23-5.

(Ger).

Bickel H. The first treatment of phenylketonuria. Eur J

Pediatr 1996 Jul;155 Suppl 1:S2-3.

Bickel H. Phenylalaninaemia or classical

phenylketonuria (PKU)? Neuropadiatrie 1970

Apr;1(4):379-82.

Bickel H. [Phenylketonuria. Yesterday, today and

tomorrow]. Arch Fr Pediatr 1983;40 Suppl 1:207-13.

(Fre).

Bickel H. Recent advances in the early detection and

treatment of inborn errors with brain damage.

Neuropadiatrie 1969 Jun-Jul;1(1):1-11.

Bickel H, Bremer HJ. [On phenylketonuria. Carrying

out of phenylalanine-low diet]. Dtsch Med

Wochenschr 1967 Apr 14;92(15):700-10. (Ger).

Bickel H, Gerrard J, Hickmans EM. Influence of

phenylalanine intake on phenylketonuria. Lancet 1953

Oct 17;2:812-3.

Bickel H, Ruter E, Nutzenadel W. [Early detection of

hereditary enzyme defects of amino acid metabolism

by means of microbiological inhibitor tests and thin

layer chromatography]. Z Klin Chem Klin Biochem

1969 Mar;7(2):203-4. (Ger).

Bush JW, Chen MM, Patrick DL. Health status index

in cost effectiveness: analysis of PKU program. In:

Berg RL, editor. Health status indexes. Proceedings

of the Conference on a Health Status Index; 1972 Oct

1-4; Tucson, AZ. Chicago: Hospital Research and

Educational Trust; 1973. p. 172-209.

Centerwall SA, Centerwall WR. The discovery of

phenylketonuria: the story of a young couple, two

retarded children, and a scientist. Pediatrics 2000

Jan;105(1 Pt 1):89-103.

Eggers C, Bickel H. [Pre-, peri- and postnatal causes

of mental retardation]. Ergeb Inn Med Kinderheilkd

1974;34(0):155-205. (Ger).

Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA,

Schwartz EI, Kuzmin AI, Baranovskaya SS,

Tsukerman GL, Treacy E, Scriver CR, et al.

Recurrence of the R408W mutation in the

phenylalanine hydroxylase locus in Europeans. Am J

Hum Genet 1995 Jan;56(1):278-86.

Elgjo RF. Asbjorn Folling, his life and work. Prog

Clin Biol Res 1985;177:79-92.

Folling A. [Phenylketonuria]. Tidsskr Nor Laegeforen

1967 Mar 1;87(5 Suppl):451-4. (Nor).

Folling A. Uber Ausscheidung von

Phenylbrenztraubensaure in den Harn als

Stoffwechselanomalie in Verbindung mit Imbezillitat.

Hoppe Seylers Z Physiol Chem 1934;277:169-79.

(Ger).

Folling I. The discovery of phenylketonuria. Acta

Paediatr Suppl 1994 Dec;407:4-10.

Gerrard JW. Phenylketonuria revisited. Clin Invest

Med 1994 Oct;17(5):510-3.

Guthrie R. Blood screening for phenylketonuria

[letter]. JAMA 1961 Nov 25;178(8):863.

Guthrie R. The introduction of newborn screening for

phenylketonuria. A personal history. Eur J Pediatr

1996 Jul;155 Suppl 1:S4-5.

Guthrie R, Susi A. A simple phenylalanine method for

detecting phenylketonuria in large populations of

newborn infants. Pediatrics 1963 Sep;32(3):338-43.

Guttler F. [Folling's disease: 50 years and still a

catalyst of new discoveries in clinical medicine]. Nord

Med 1984;99(3):78-81. (Dan).

Guttler F. Phenylketonuria: 50 years since Folling's

discovery and still expanding our clinical and
2

biochemical knowledge. Acta Paediatr Scand 1984

Nov;73(6):705-16.

Jervis GA. Studies on phenylpyruvic oligophrenia: the

position of the metabolic error. J Biol Chem 1947

Aug;169(3):651-6.

Kaufman S. Experiencing classical enzymology in its

prime. Protein Sci 1996 Aug;5(8):1742-6.

Kaufman S. The phenylalanine hydroxylating system

from mammalian liver. Adv Enzymol 1971;35:245-

319.

Koch J. Robert Guthrie--the PKU story: a crusade

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House; c1997. 190 p.

Koch R, de la Cruz F. Historical aspects and overview

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Koch R, Williamson ML, Donnell GN, Guthrie R,

Straus R, Coffelt W, Fish CH. A cooperative study of

two methods for phenylalanine determination:

McCaman-Robins fluorimetric and microbiologic

inhibition methods. J Pediatr 1966 Jun;68(6):905-11.

Ledley FD. Somatic gene therapy for human disease: a

problem of eugenics? Trends Genet 1987

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Lie SO. [Asbjorn Folling's disease. Reflections on a

50-year anniversary]. Tidsskr Nor Laegeforen 1984

Dec 10;104(34):2381-5. (Nor).

McDonald JD. The PKU mouse project: its history,

potential and implications. Acta Paediatr Suppl 1994

Dec;407:122-3.

Murphey WH, Patchen L, Guthrie R. Screening tests

for argininosuccinic aciduria, orotic aciduria, and

other inherited enzyme deficiencies using dried blood

specimens. Biochem Genet 1972 Feb;6(1):51-9.

Nutrition classics, the Journal of Clinical

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phenylketonuria. I. Restricted phenylalanine intake in

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H. Tyler. Nutr Rev 1983 Jan;41(1):15-8.

Paul D. A double-edged sword. Nature 2000 Jun

1;405(6786):515.

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PKU. Brussels, Belgium, October 1986. Dedicated to

Horst Bickel. Eur J Pediatr 1987;146 Suppl 1:A1-43.

Schmidt H, Bickel H. [Phenylketonuria]. Internist

(Berl) 1976 Jul;17(7):354-61. (Ger).

Schroeder SR. The PKU story - Guthrie,R. Am J Ment

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Scriver CC. A simple phenylalanine method for

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newborn infants, by Robert Guthrie and Ada Susi,

Pediatrics, 1963;32:318-343. Pediatrics 1998

Jul;102(1 Pt 2):236-7.

Scriver CR. Whatever happened to PKU? Clin

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Schmidt H, Grubel-Kaiser S, Bickel H. Effect of

stopping low-phenylalanine diet on intellectual

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Hum Genet 1997 Aug;100(2):189-94.
3

Overviews and Reviews

Abadie V, Depondt E, Farriaux JP, Lepercq J, Lyonnet

S, Maurin N, Ogier de Baulny H, Vidailhet M.

[Pregnancy and the child of a mother with

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Top Clin Nutr 1995 Mar;10(2):48-72.

Addison GM, et al., editors. Practical developments in

inherited metabolic disease: DNA analysis,

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Symposium of the Society for the Study of Inborn

Errors of Metabolism; 1985 Sep; Liverpool, England.

Boston: MTP Press; c1986. 335 p.

Allen RJ, Brunberg J, Schwartz E, Schaefer AM,

Jackson G. MRI characterization of cerebral

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1994 Dec;407:83-5.

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Rubio A, Riverola de Vecina AT. [Phenylalanine

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Ambulatory nutrition care: infants. J Am Diet Assoc

1989 Apr;89(4):S15-6.

Ambulatory Nutrition Care: pregnant women. J Am

Diet Assoc 1989 Apr;89(4 Suppl):S10-4.

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environmental factors. Res Publ Assoc Res Nerv Ment

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Dihydropteridine reductase (DHPR), its cofactors, and

its mode of action. Med Res Rev 1984 JulSep;4(3):267-321.

Bailey SW, Boerth SR, Dillard SB, Ayling JE. The

mechanism of cofactor regeneration during

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1993;338:47-54.

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genetics of human monogenic diseases. Biotechnol

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Tsitol Genet 1992 Jul-Aug;26(4):64-72. (Rus).

Barker HA. Amino acid degradation by anaerobic

bacteria. Annu Rev Biochem 1981;50:23-40.

Batshaw ML. PKU and other inborn errors of

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Baumeister AA, Baumeister AA. Dietary treatment of

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Bickel H. Recent advances in the early detection and

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4

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5

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