Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course☆,☆☆,★,★★
Section snippets
CASE REPORTS
All nine patients (Table), from seven families, were born in two regions of southern Italy, Campania (seven) or Calabria (two). In all families the patients' parents originated from the same geographic area; consanguinity was confirmed in three families. In two families remote consanguinity can be supposed because of the presence of common last names in the maternal and paternal ancestries. The diagnosis of LPI relied on both clinical and biochemical criteria. In all patients, biochemical
DISCUSSION
Approximately half of the patients with LPI have been described in Finland, where the disease has a prevalence of about 1:60,000. LPI appears to be much more rare in other populations, where only sporadic cases have been found.10 In Italy, however, a multicenter study has recently collected 17 cases, including those described here.5 Three additional cases have recently been referred to our attention (Magazzù G, Dionisi Vici C, Rizzoni G: personal communication, 1994). All subjects came from
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Cited by (56)
Pulmonary phenotypes of inborn errors of metabolism
2022, Revue des Maladies RespiratoiresLysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy
2021, Molecular Genetics and Metabolism ReportsCitation Excerpt :The decreased factor V level cannot be explained by hepatic dysfunction as the other coagulation factors were normal. The remaining hematological findings were similar to the patients reported in the literature [9,10,15,16,18–23]. Growth hormone deficiency is secondary to arginine depletion in LPI [2].
Amino Acid Metabolism
2020, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic DisordersPulmonary Alveolar Proteinosis Syndrome
2016, Clinics in Chest MedicineCitation Excerpt :Surfactant production disorders are less common and are caused by genetic mutations in genes that encode surfactant proteins or proteins involved in surfactant lipid metabolism, such as mutations in the SFTPB, SFTPC, ABCA3, or Nkx2.1 genes. Other genetic defects, such as y+LAT1 (SLC7A7) gene mutations, which causes lysinuric protein intolerance,18 and Methionyl-tRNA synthetase (MARS) gene mutations,19 were reported to be associated with PAP. The precise mechanisms of PAP pathogenesis induced by these gene mutations have not been elucidated.
Lysinuric protein intolerance presenting with multiple fractures
2014, Molecular Genetics and Metabolism ReportsAmino Acid Metabolism
2013, Emery and Rimoin's Principles and Practice of Medical Genetics
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From the Departments of Pediatrics and Pathology, Federico II University, Naples, and the Department of Pediatrics, University of Reggio Calabria, Catanzaro, Italy
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Supported in part by Ministero della Sanitá, "Progetto Gaslini Nord e Sud—Malattie genetiche—1991," Rome, Italy, and in part by Telethon Italy (grant No. E.09).
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Reprint requests: Generoso Andria, MD, Department of Pediatrics, Federico II University, Via S. Pansini 5, 80131 Naples, Italy.
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0022-3476/95/$3.00 + 0 9/20/60161