title: Growth hormone deficiency in a patient with lysinuric protein intolerance.
abstract: BACKGROUND
  Lysinuric protein intolerance (LPI; MIM 222700) is a rare, autosomal recessive metabolic disorder caused by mutations in the SLC7A7 gene, which encodes the light chain of the cationic amino acids (CAA) transporter y+. The clinical presentation of LPI includes gastrointestinal symptoms, failure to thrive, episodes of coma, hepatosplenomegaly and osteoporosis. However, other findings have also been reported, and these suggest a multisystem involvement.
  
  
  CONCLUSIONS
  We report a girl with confirmed LPI who presented with severe short stature that was unresponsive to adequate LPI treatment. The girl was found to have a classic growth hormone deficiency (GHD) and responded well to growth hormone (GH) replacement therapy.
  
  
  CONCLUSIONS
  While it is not known whether the mechanisms involved in the GHD of our patient are related to LPI, this case suggests that GH/IGF-I axis should be investigated in LPI children with persistent growth failure.
authors.affiliation: Department of Pediatrics, Federico II University of Naples, Via S. Pansini 5-80131, Naples, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Esposito
authors.forename: Teresa
authors.initials: T
authors.lastname: Lettiero
authors.forename: Simona
authors.initials: S
authors.lastname: Fecarotta
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Sebastio
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Mariacarolina
authors.initials: M
authors.lastname: Salerno
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy / Q000209:etiology*; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D008239:Lysine / Q000652:urine*
chemical_list: D019382:Human Growth Hormone; D008239:Lysine