Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 located on the chromosome 14q11.2. LPI is most prevalent in Finland (1:50,000), Northern Japan (1:60,000) and Italy. Cases have also been reported in Spain and the United States. Here we repo...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2015-03-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426914000846 |
| _version_ | 1811223113600335872 |
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| author | David Carpentieri Margaret F. Barnhart Kyrieckos Aleck Tamir Miloh Daphne deMello |
| author_facet | David Carpentieri Margaret F. Barnhart Kyrieckos Aleck Tamir Miloh Daphne deMello |
| author_sort | David Carpentieri |
| collection | DOAJ |
| description | Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 located on the chromosome 14q11.2. LPI is most prevalent in Finland (1:50,000), Northern Japan (1:60,000) and Italy. Cases have also been reported in Spain and the United States. Here we report two siblings of Mexican descent. The older child was diagnosed at the age of three with severe chronic respiratory insufficiency leading to her demise. In contrast, the younger child was diagnosed soon after birth and dietary therapy has led to a stable life. Genetic analysis revealed a previously unreported deletion in the SLC7A7 gene. Additional research is needed to clarify the role of lysine in the pathophysiology of pulmonary proteinosis and herpes infections. |
| first_indexed | 2024-04-12T08:27:31Z |
| format | Article |
| id | doaj.art-77fa0f7b5935481bb3a11d9b04a7508b |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-04-12T08:27:31Z |
| publishDate | 2015-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-77fa0f7b5935481bb3a11d9b04a7508b2022-12-22T03:40:19ZengElsevierMolecular Genetics and Metabolism Reports2214-42692015-03-012C475010.1016/j.ymgmr.2014.12.005Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literatureDavid Carpentieri0Margaret F. Barnhart1Kyrieckos Aleck2Tamir Miloh3Daphne deMello4Pathology Division, Phoenix Children's Hospital, 1919 E Thomas Rd, Phoenix, AZ 85016, United StatesAnethesiology Dept., Loma Linda University Medical Center, 11234 Anderson St., Loma Linda, CA 92354Genetic Division, Phoenix Children's Hospital, 1919 E Thomas Rd, Phoenix, AZ 85016, United StatesGastroenterology Division, Phoenix Children's Hospital, 1919 E Thomas Rd, Phoenix, AZ 85016, United StatesPathology Division, Phoenix Children's Hospital, 1919 E Thomas Rd, Phoenix, AZ 85016, United StatesLysinuric protein intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 located on the chromosome 14q11.2. LPI is most prevalent in Finland (1:50,000), Northern Japan (1:60,000) and Italy. Cases have also been reported in Spain and the United States. Here we report two siblings of Mexican descent. The older child was diagnosed at the age of three with severe chronic respiratory insufficiency leading to her demise. In contrast, the younger child was diagnosed soon after birth and dietary therapy has led to a stable life. Genetic analysis revealed a previously unreported deletion in the SLC7A7 gene. Additional research is needed to clarify the role of lysine in the pathophysiology of pulmonary proteinosis and herpes infections.http://www.sciencedirect.com/science/article/pii/S2214426914000846LysinuricSLC7A714q11.2 |
| spellingShingle | David Carpentieri Margaret F. Barnhart Kyrieckos Aleck Tamir Miloh Daphne deMello Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature Molecular Genetics and Metabolism Reports Lysinuric SLC7A7 14q11.2 |
| title | Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature |
| title_full | Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature |
| title_fullStr | Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature |
| title_full_unstemmed | Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature |
| title_short | Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature |
| title_sort | lysinuric protein intolerance in a family of mexican ancestry with a novel slc7a7 gene deletion case report and review of the literature |
| topic | Lysinuric SLC7A7 14q11.2 |
| url | http://www.sciencedirect.com/science/article/pii/S2214426914000846 |
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