Hartnup Disorder

2009 ◽  
pp. 775-775
Author(s):  
Dieter Metze ◽  
Vanessa F. Cury ◽  
Ricardo S. Gomez ◽  
Luiz Marco ◽  
Dror Robinson ◽  
...  
Keyword(s):  
Hartnup Disorder

scholarly journals Intestinal Absorption of Amino Acids and Peptides in Hartnup Disorder

1976 ◽  
Vol 10 (4) ◽  
pp. 246-249 ◽  
Author(s):  
J V Leonard ◽  
T C Marrs ◽  
J M Addison ◽  
D Burston ◽  
K M Clegg ◽  
...  
Keyword(s):  
Amino Acids ◽  
Intestinal Absorption ◽  
Hartnup Disorder

Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder

2005 ◽  
Vol 33 (1) ◽  
pp. 233-236 ◽  
Author(s):  
S. Bröer ◽  
J.A. Cavanaugh ◽  
J.E.J. Rasko
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Amino Acid Transport ◽  
Neutral Amino Acid ◽  
Electrophysiological Recording ◽  
Candidate Gene Approach ◽  
Acid Transport ◽  
Japanese Family ◽  
Transporter Family ◽  
Hartnup Disorder

Hartnup disorder is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport. A corresponding transport activity has been characterized in kidney and intestinal cells and named system B0. The failure to resorb amino acids in this disorder is thought to be compensated by a protein-rich diet. However, in combination with a poor diet and other factors, more severe symptoms can develop in Hartnup patients, including a photosensitive pellagra-like skin rash, cerebellar ataxia and other neurological symptoms. Homozygosity mapping in a Japanese family and linkage analysis on six Australian pedigrees placed the Hartnup disorder gene at a locus on chromosome 5p15. This fine mapping facilitated a candidate gene approach within the interval, which resulted in the cloning and characterization of a novel member of the sodium-dependent neurotransmitter transporter family (B0AT1, SLC6A19) from mouse and human kidney, which shows all properties of system B0. Flux experiments and electrophysiological recording showed that the transporter is Na+ dependent and Cl− independent, electrogenic and actively transports most neutral amino acids. In situ hybridization showed strong expression in intestinal villi and in the proximal tubule of the kidney. Expression of B0AT1 was restricted to kidney, intestine and skin. A total of ten mutations have been identified in SLC6A19 that co-segregate with disease in the predicted recessive manner, with the majority of affected individuals being compound heterozygotes. These mutations lead to altered neutral amino acid transport function compared to the wild-type allele in vitro. One of the mutations occurs in members of the original Hartnup family described in 1956, thereby defining SLC6A19 as the ‘Hartnup’-gene.

Apical Transporters for Neutral Amino Acids: Physiology and Pathophysiology

Physiology ◽  
2008 ◽  
Vol 23 (2) ◽  
pp. 95-103 ◽  
Author(s):  
Stefan Bröer
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Molecular Identification ◽  
Molecular Basis ◽  
Amino Acid Transporters ◽  
Lysinuric Protein Intolerance ◽  
Inherited Disorders ◽  
Lysinuric Protein ◽  
Hartnup Disorder ◽  
Protein Intolerance

Absorption of amino acids in kidney and intestine involves a variety of transporters for different groups of amino acids. This is illustrated by inherited disorders of amino acid absorption, such as Hartnup disorder, cystinuria, iminoglycinuria, dicarboxylic aminoaciduria, and lysinuric protein intolerance, affecting separate groups of amino acids. Recent advances in the molecular identification of apical neutral amino acid transporters has shed a light on the molecular basis of Hartnup disorder and iminoglycinuria.

Homozygosity Mapping to Chromosome 5p15 of a Gene Responsible for Hartnup Disorder

2001 ◽  
Vol 284 (2) ◽  
pp. 255-260 ◽  
Author(s):  
Jun-ichi Nozaki ◽  
Miwako Dakeishi ◽  
Toshihiro Ohura ◽  
Kimiko Inoue ◽  
Motomu Manabe ◽  
...  
Keyword(s):  
Homozygosity Mapping ◽  
Hartnup Disorder
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