Journal of Applied Genetics

, Volume 48, Issue 3, pp 277–280

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis

  • Loreta Cimbalistienè
  • Willy Lehnert
  • Kirsi Huoponen
  • Vaidutis Kučinskas
Case Report

DOI: 10.1007/BF03195224

Cite this article as:
Cimbalistienè, L., Lehnert, W., Huoponen, K. et al. J Appl Genet (2007) 48: 277. doi:10.1007/BF03195224

Abstract

We report on an 18-year-old Lithuanian girl with hepatosplenomegaly noticed at birth, which progressed thereafter. The patient had to wait about 17 years for an accurate diagnosis and appropriate therapy. Lactase deficiency, congenital cataract of the right eye, and osteoporosis were observed. Episodes of drowsiness were caused by intake of high-protein food. Laboratory findings included slight hyperammonaemia, high plasma Citr, Ala, Gly, Glu, Ser levels, as well as citrullinuria, lysinuria, glutaminuria, alaninuria, argininuria, prolinuria, hydroxyprolinuria, ornithinuria, and orotic aciduria. A version to high-protein diet strongly suggested a disorder resulting in hyperammonaemia. Citrullinaemia was suspected. Subsequently the diagnosis of LPI was made on the basis of biochemical and clinical features. Molecular genetic testing revealed a mutation in theSLC7A7 gene, confirming the diagnosis.

Keywords

aversion to proteinhepatosplenomegalylysinuric protein intolerancesecondary juvenile osteoporosis

Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2007

Authors and Affiliations

  • Loreta Cimbalistienè
    • 1
  • Willy Lehnert
    • 2
  • Kirsi Huoponen
    • 3
  • Vaidutis Kučinskas
    • 1
  1. 1.Department of Human and Medical GeneticsVilnius UniversityVilniusLithuania
  2. 2.Metabolic UnitUniversity Children’s HospitalFreiburgGermany
  3. 3.Department of Medical GeneticsUniversity of TurkuFinland