Synonyms
Hartnup disorder
Definition and Characteristics
Autosomal recessive transport defect of neutral amino acids in the kidneys and small intestine leading to pellagra-like skin rash, cerebellar ataxia and psychotic behavior.
Prevalence
Approximately one in 30,000 newborns [1]. No ethnic predilection has been reported.
Molecular and Systemic Pathophysiology
The transport of neutral amino acids (e.g., alanine, serine, threonine, valine, leucine, isoleucine, phenylalanine, tyrosine, tryptophane, histidine, glutamine and asparagine) by the intestinal mucosa and renal tubules is impaired. Unabsorbed tryptophane in the intestine is converted to indole by bacteria, absorbed, converted to 3-hydroxyindole in the liver and excreted in urine in large amounts, leading to indicanuria. Many children with Hartnup disease remain asymptomatic. In symptomatic patients, the...
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References
Levy HL (1995) In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3629–3642
Nozaki J, Dakeishi M, Ohura T, Inoue K, Manabe M, Wada Y, Koizumi A (2001) Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. Biochem Biophys Res Commun 284:255–260
Broer A, Klingel K, Kowalczuk S, Rasko JE, Cavanaugh J, Broer S (2004) Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder. J Biol Chem 279:24467–24476
Baron DN, Dent CE, Harris H, Hart EW, Jepson JB (1956) Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet 271:421–428
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Matsubara, Y., Tada, K. (2009). Hartnup Disease. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_746
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DOI: https://doi.org/10.1007/978-3-540-29676-8_746
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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