First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis
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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.
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- First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis
Journal of Applied Genetics
Volume 48, Issue 3 , pp 277-280
- Cover Date
- Print ISSN
- Online ISSN
- Additional Links
- aversion to protein
- lysinuric protein intolerance
- secondary juvenile osteoporosis
- Author Affiliations
- 1. Department of Human and Medical Genetics, Vilnius University, Santariškių 2, Vilnius, Lithuania
- 2. Metabolic Unit, University Children’s Hospital, Freiburg, Germany
- 3. Department of Medical Genetics, University of Turku, Finland