The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis


Durmusalioglu E. A. , IŞIK E. , Emecen D. A. , Goksen D., ÖZEN S. , Onay H. , ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.7, pp.957-960, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 7
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2021-0018
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.957-960
  • Keywords: lysinuric protein intolerance, next generation sequencing, osteoporosis, reverse phenotyping, SLC7A7

Abstract

Objectives: Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. We report a case diagnosed to have LPI using a Next Generation Sequencing (NGS) panel and evaluate the utility of reverse phenotyping.