eMedicine Specialties > Dermatology > Pediatric Diseases

Hartnup Disease: Follow-up

Author: Lidija Kandolf Sekulovic, MD, PhD, Associate Professor, Head of the First Division, Department of Dermatology and Venereology, Military Medical Academy, Serbia
Coauthor(s): Djordjije Karadaglic, MD, DSc, Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro; Ljubomir Stojanov, MD, PhD, Professor, University of Belgrade School of Medicine, Serbia
Contributor Information and Disclosures

Updated: Feb 6, 2009

Follow-up

Further Outpatient Care

  • Advise patients to use protection from sunlight, to avoid other aggravating factors, to consume a high-protein diet, and to take daily supplements of nicotinic acid.
  • In patients who are symptomatic, recommend regular follow-up examinations, depending on the severity of symptoms and the organ systems involved.

Inpatient & Outpatient Medications

  • Patients should continue taking daily supplements of nicotinic acid.

Deterrence/Prevention

Deterrence and prevention are as follows19,20 :

  • Because sun exposure can exacerbate Hartnup disease, advise patients to protect themselves from sunlight.
  • Because aggravating factors, such as sulfonamides and possibly emotional stress, can exacerbate Hartnup disease, advise patients to avoid these factors.

Complications

Complications are as follows3,17,26 :

  • Severe CNS involvement may rarely lead to death in the first years of life.
  • Psychotic episodes and delirium are described in a minority of patients.
  • Mild mental retardation is described in only a few patients.
  • Long-lasting hypopigmentation and/or hyperpigmentation of the skin are seen with repeated exposures to sunlight, which should be avoided by using proper photoprotection.

Prognosis

  • Attacks become less frequent with increasing age.18

Patient Education

  • Educate patients to protect themselves from sunlight, to avoid other aggravating factors, and to consume a high-protein diet.

Miscellaneous

Medicolegal Pitfalls

  • Failure to diagnose and to treat Hartnup disease because of the wide clinical spectrum of the disease, especially in patients with mild skin involvement, is a pitfall.
  • Failure to advise patients regarding adequate protein intake and niacin supplementation, without which remission cannot be achieved, is a pitfall.

Special Concerns

  • Maternal Hartnup disease does not influence the outcome of pregnancy. Placental transport of free amino acids may not be reduced in maternal Hartnup disorder.28
 
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.



More on Hartnup Disease

Overview: Hartnup Disease
Differential Diagnoses & Workup: Hartnup Disease
Treatment & Medication: Hartnup Disease
Follow-up: Hartnup Disease
Multimedia: Hartnup Disease
References
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References

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  2. Bröer S, Cavanaugh JA, Rasko JE. Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder. Biochem Soc Trans. Feb 2005;33:233-6. [Medline].

  3. Galadari E, Hadi S, Sabarinathan K. Hartnup disease. Int J Dermatol. Dec 1993;32(12):904. [Medline].

  4. Bröer A, Cavanaugh JA, Rasko JE, Bröer S. The molecular basis of neutral aminoacidurias. Pflugers Arch. Jan 2006;451(4):511-7. [Medline].

  5. Seow HF, Broer S, Broer A, et al. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nat Genet. Sep 2004;36(9):1003-7. [Medline].

  6. Kleta R, Romeo E, Ristic Z, et al. Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet. Sep 2004;36(9):999-1002. [Medline].

  7. Broer S, Cavanaugh JA, Rasko JE. Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder. Biochem Soc Trans. Feb 2005;33:233-6. [Medline].

  8. Nozaki J, Dakeishi M, Ohura T, et al. Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. Biochem Biophys Res Commun. Jun 8 2001;284(2):255-60. [Medline].

  9. Bröer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Broer S. Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder. J Biol Chem. Jun 4 2004;279(23):24467-76. [Medline].

  10. Symula DJ, Shedlovsky A, Dove WF. Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse. Mamm Genome. Feb 1997;8(2):98-101. [Medline].

  11. Seow HF, Broer S, Broer A, et al. Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nat Genet. Sep 2004;36(9):1003-7. [Medline].

  12. Azmanov DN, Kowalczuk S, Rodgers H, et al. Further evidence for allelic heterogeneity in Hartnup disorder. Hum Mutat. Oct 2008;29(10):1217-21. [Medline].

  13. Azmanov DN, Rodgers H, Auray-Blais C, et al. Persistence of the common Hartnup disease D173N allele in populations of European origin. Ann Hum Genet. Nov 2007;71:755-61. [Medline].

  14. Broer S. Apical transporters for neutral amino acids: physiology and pathophysiology. Physiology (Bethesda). Apr 2008;23:95-103. [Medline].

  15. Broer S. Apical transporters for neutral amino acids: physiology and pathophysiology. Physiology (Bethesda). Apr 2008;23:95-103. [Medline].

  16. Milovanovic DD. A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease. Adv Exp Med Biol. 2003;527:325-35. [Medline].

  17. Schmidtke K, Endres W, Roscher A, et al. Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study. Eur J Pediatr. Dec 1992;151(12):899-903. [Medline].

  18. Wilcken B, Yu JS, Brown DA. Natural history of Hartnup disease. Arch Dis Child. Jan 1977;52(1):38-40. [Medline].

  19. Oakley A, Wallace J. Hartnup disease presenting in an adult. Clin Exp Dermatol. Sep 1994;19(5):407-8. [Medline].

  20. Levy H. Hartnup Disorder. In: Scriver CR, Beaudet A L, Sly WS, Valle D. The metabolic and molecularbases of inherited disease. New York: McGraw-Hill; 2001:4957–4969.

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  24. Camargo SM, Bockenhauer D, Kleta R. Aminoacidurias: Clinical and molecular aspects. Kidney Int. Apr 2008;73(8):918-25. [Medline].

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Further Reading

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Keywords

Hartnup disease, Hartnup disorder, Hartnup aminoaciduria, Hartnup syndrome, MIM #234500, Mendelian Inheritance in Man #234500

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Contributor Information and Disclosures

Author

Lidija Kandolf Sekulovic, MD, PhD, Associate Professor, Head of the First Division, Department of Dermatology and Venereology, Military Medical Academy, Serbia
Lidija Kandolf Sekulovic, MD, PhD is a member of the following medical societies: European Academy of Dermatology and Venereology 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, Professor, University of Belgrade School of Medicine, Serbia
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

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.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-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.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine 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, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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