ArticleMolecular genetics and metabolism reports2015
Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.
Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Lysinuric Protein Intolerance (LPI) Presenting with Macrocephaly, Hepatosplenomegaly and Myelosuppression.Indian journal of pediatrics · 2025Article
- Lysinuric protein intolerance caused by a homozygousMolecular genetics and metabolism reports · 2023Article
- Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report.BMC pediatrics · 2023Article
- Children with lysinuric protein intolerance: Experience from a lower middle income country.World journal of clinical pediatrics · 2022Article
- Lysinuric protein intolerance mimickingMolecular genetics and metabolism reports · 2021Article
- Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology.Advances in experimental medicine and biology · 2021Review
- Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.Frontiers in pediatrics · 2021Article
- Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.Translational science of rare diseases · 2020Article
- Overview of symptoms and treatment for lysinuric protein intolerance.Journal of human genetics · 2019Review
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.Virchows Archiv : an international journal of pathology · 2018Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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