Dermatologic Manifestations of Phenylketonuria Treatment & Management

  • Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Aug 15, 2011
 

Medical Care

Treatment of phenylketonuria (PKU) with a diet low in Phe and with tyrosine supplementation is required for normal psychomotor development. The diet should not be terminated after adolescence because strong evidence indicates hyperphenylalaninemia can have detrimental effects in adult patients.

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Consultations

Consult a psychologist for assessment and management of mental disorders. Consult a nutritionist for dietary instructions.

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Diet

As a result of the lack of internationally accepted guidelines, the management of phenylketonuria (PKU) varies among countries. Instruct patients to do the following:

  • Selectively restrict Phe consumption (ie, approximately 250-550 mg/d or 40-60 mg/kg/d in newborns).
  • Supplement the diet with tyrosine. However, tyrosine supplementation does not appear to alter neuropsychologic performance in individuals with PKU.
  • Avoid the use of products containing aspartame (artificial sweetener). Aspartame is used widely in medicines, vitamins, beverages, chewing gum, and many other products.
  • Eliminate all high-protein foods (eg, meat and meat products, milk and dairy products, nuts, legumes), and introduce low-protein foods (eg, fruits, vegetables, breads).
  • Supplement the diet with sufficient nutrients (eg, vitamins, long-chain polyunsaturated fatty acids) - Restricted diets in patients with PKU may alter antioxidant status as a result of deficiency of selenium or coenzyme Q10 deficiency.[10]
  • Advice on specific diet recommendations can be found at many Web sites devoted to PKU. The Web site National PKU News has extensive dietary recommendations. Links to a variety of international organizations for PKU can be found under "Related Links." Some languages available include German, Danish, Dutch, and Spanish. Food companies distributing products useful for low-protein diets are also listed.
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Activity

Advise continuation of normal activity in patients who are adequately treated.

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Contributor Information and Disclosures
Author

Zeljko P Mijuskovic, MD, PhD  Associate Professor of Dermatology, Department of Dermatology and Venereology, Military Medical Academy, Serbia

Zeljko P Mijuskovic, MD, PhD is a member of the following medical societies: European Academy of Dermatology and Venereology, European Society for Dermatological Research, International Society of Dermatology, and Serbian Association of DermatoVenereologists

Disclosure: Nothing to disclose.

Coauthor(s)

Djordjije Karadaglic, MD, DSc  Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro

Djordjije Karadaglic, MD, DSc is a member of the following medical societies: American Academy of Dermatology, European Academy of Dermatology and Venereology, and Serbian Association of DermatoVenereologists

Disclosure: Nothing to disclose.

Ljubomir Stojanov, MD, PhD  Lecturer in Metabolism and Clinical Genetics, University of Belgrade School of Medicine, Serbia

Disclosure: Nothing to disclose.

Specialty Editor Board

Mark A Crowe, MD  Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.

References

  1. Ounap K, Lillevali H, Metspalu A, Lipping-Sitska M. Development of the phenylketonuria screening programme in Estonia. J Med Screen. 1998;5(1):22-3. [Medline].

  2. Santos LL, Castro-Magalhaes M, Fonseca CG, et al. PKU in Minas Gerais State, Brazil: mutation analysis. Ann Hum Genet. Nov 2008;72:774-9. [Medline].

  3. Stojiljkovic M, Jovanovic J, Djordjevic M, et al. Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro. Clin Genet. Aug 2006;70(2):151-5. [Medline].

  4. Guldberg P, Henriksen KF, Sipila I, Guttler F, de la Chapelle A. Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland. J Med Genet. Dec 1995;32(12):976-8. [Medline].

  5. Williams RA, Mamotte CD, Burnett JR. Phenylketonuria: an inborn error of phenylalanine metabolism. Clin Biochem Rev. Feb 2008;29(1):31-41. [Medline].

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  7. Martynyuk AE, Ucar DA, Yang DD, et al. Epilepsy in phenylketonuria: a complex dependence on serum phenylalanine levels. Epilepsia. Jun 2007;48(6):1143-50. [Medline].

  8. Brumm VL, Bilder D, Waisbren SE. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab. 2010;99 Suppl 1:S59-63. [Medline].

  9. Cleary MA, Walter JH, Wraith JE, et al. Magnetic resonance imaging of the brain in phenylketonuria. Lancet. Jul 9 1994;344(8915):87-90. [Medline].

  10. Feillet F, van Spronsen FJ, MacDonald A, Trefz FK, Demirkol M, Giovannini M, et al. Challenges and pitfalls in the management of phenylketonuria. Pediatrics. Aug 2010;126(2):333-41. [Medline].

  11. Sarkissian CN, Gamez A, Scriver CR. What we know that could influence future treatment of phenylketonuria. J Inherit Metab Dis. Feb 2009;32(1):3-9. [Medline].

  12. Pietz J, Kreis R, Rupp A, et al. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest. Apr 1999;103(8):1169-78. [Medline].

  13. Bekhof J, van Rijn M, Sauer PJ, et al. Plasma phenylalanine in patients with phenylketonuria self-managing their diet. Arch Dis Child. Feb 2005;90(2):163-4. [Medline].

  14. Anastasoaie V, Kurzius L, Forbes P, Waisbren S. Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol Genet Metab. Sep-Oct 2008;95(1-2):17-20. [Medline].

  15. Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. Sep-Oct 2007;92(1-2):63-70. [Medline].

  16. Bosch AM, Tybout W, van Spronsen FJ, et al. The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. J Inherit Metab Dis. Feb 2007;30(1):29-34. [Medline].

  17. Macdonald A, Davies P, Daly A, et al. Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria?. J Hum Nutr Diet. Aug 2008;21(4):351-8. [Medline].

  18. Lee PJ, Ridout D, Walter JH, Cockburn F. Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. Arch Dis Child. Feb 2005;90(2):143-6. [Medline].

  19. Maillot F, Lilburn M, Baudin J, Morley DW, Lee PJ. Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine. Am J Clin Nutr. Sep 2008;88(3):700-5. [Medline].

 
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Fair skin and hair resulting from impairment of melanin synthesis.
 
 
 
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