Hartnup Disease Follow-up

  • Author: Lidija Kandolf Sekulovic, MD, PhD; Chief Editor: William D James, MD   more...
 
Updated: Aug 16, 2011
 

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.

Next

Inpatient & Outpatient Medications

Patients should continue taking daily supplements of nicotinic acid.

Previous
Next

Deterrence/Prevention

Deterrence and prevention are as follows[24, 25] :

  • 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.
Previous
Next

Complications

Complications are as follows[3, 22, 33] :

  • 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.
Previous
Next

Prognosis

Attacks become less frequent with increasing age.[23]

Previous
Next

Patient Education

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

Previous
 
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  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

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

References

  1. Baron DN, Dent CE, Harris H, Hart EW, Jepson JB. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet. Sep 1 1956;271(6940):421-8. [Medline].

  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. Bröer A, Juelich T, Vanslambrouck JM, Tietze N, Solomon PS, Holst J. Impaired Nutrient Signaling and Body Weight Control in a Na+ Neutral Amino Acid Cotransporter (Slc6a19)-deficient Mouse. J Biol Chem. Jul 29 2011;286(30):26638-51. [Medline].

  12. 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].

  13. 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].

  14. Zheng Y, Zhou C, Huang Y, Bu D, Zhu X, Jiang W. A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. Int J Dermatol. Apr 2009;48(4):388-92. [Medline].

  15. Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. Pediatr Neurol. May 2010;42(5):369-71. [Medline].

  16. 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].

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

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

  19. Böhmer C, Sopjani M, Klaus F, Lindner R, Laufer J, Jeyaraj S, et al. The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19. Cell Physiol Biochem. 2010;25(6):723-32. [Medline].

  20. Nässl AM, Rubio-Aliaga I, Fenselau H, Marth MK, Kottra G, Daniel H. Amino acid absorption and homeostasis in mice lacking the intestinal peptide transporter PEPT1. Am J Physiol Gastrointest Liver Physiol. Jul 2011;301(1):G128-37. [Medline].

  21. 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].

  22. 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].

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

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

  25. 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.

  26. Stojanov LJ, Karadaglic DJ. Skin changes in children with inborn errors of amino acids metabolism. In: Karadaglic DJ, ed. Dermatology. Belgrade: Vojnoizdavacki zavod-Verzal Press; 2000:1505-12.

  27. Scriver CR, Mahon B, Levy HL, et al. The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet. May 1987;40(5):401-12. [Medline].

  28. Seyhan ME, Selimoglu MA, Ertekin V, Fidanoglu O, Altinkaynak S. Acrodermatitis enteropathica-like eruptions in a child with Hartnup disease. Pediatr Dermatol. May-Jun 2006;23(3):262-5. [Medline].

  29. Orbak Z, Ertekin V, Selimoglu A, Yilmaz N, Tan H, Konak M. Hartnup disease masked by kwashiorkor. J Health Popul Nutr. Aug 2010;28(4):413-5. [Medline]. [Full Text].

  30. Sander CS, Hertecant J, Abdulrazzaq YM, Berger TG. Severe exfoliative erythema of malnutrition in a child with coexisting coeliac and Hartnup's disease. Clin Exp Dermatol. Mar 2009;34(2):178-82. [Medline].

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

  32. Henderson HE, Goodman R, Schram J, Diamond E, Daneel A. Biochemical screening for inherited metabolic disorders in the mentally retarded. S Afr Med J. Nov 7 1981;60(19):731-3. [Medline].

  33. Milovanovic D, Djukic A, Stepanovic R, Pekovic D, Vranjesevic D. [Hartnup disease (report of 2 cases in one family)]. Srp Arh Celok Lek. Mar-Apr 2000;128(3-4):97-103. [Medline].

  34. Jonas AJ, Butler IJ. Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester. J Clin Invest. Jul 1989;84(1):200-4. [Medline].

  35. Mahon BE, Levy HL. Maternal Hartnup disorder. Am J Med Genet. Jul 1986;24(3):513-8. [Medline].

 
Previous
Next
 
Photosensitivity with erythema, desquamation, and hypopigmentation and hyperpigmentation on the face.
Erythema and desquamation on the sun-exposed area of the right arm.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.