Hartnup Disease: Multimedia

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].

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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].

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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].

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Further Reading

Keywords

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

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.