New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance

Pediatr Pulmonol. 2017 Nov;52(11):E94-E96. doi: 10.1002/ppul.23760.

Abstract

Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: deletion of c.1387: del C and IVS4+1C>T. One patient was treated with inhaled rGM-CSF for 1.5 years at 5 μg/kg two times a day. Her condition is improving with no side effects.

Keywords: GM-CSF; gene mutation; lysinuric protein intolerance (LPI).

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / drug therapy
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Transport System y+L
  • Asian People / genetics
  • Child
  • Female
  • Fusion Regulatory Protein 1, Light Chains / genetics*
  • Granulocyte-Macrophage Colony-Stimulating Factor / therapeutic use
  • Heterozygote
  • Humans
  • Mutation
  • Sequence Deletion
  • Siblings

Substances

  • Amino Acid Transport System y+L
  • Fusion Regulatory Protein 1, Light Chains
  • SLC7A7 protein, human
  • Granulocyte-Macrophage Colony-Stimulating Factor

Supplementary concepts

  • Lysinuric Protein Intolerance