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Journal of Applied Genetics 48(3), 2007, pp. 277-280

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

Loreta Cimbalistiene, Willy Lehnert, Kirsi Huoponen, Vaidutis Kucinskas

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. Aversion 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 the SLC7A7 gene, confirming the diagnosis.

Key words: aversion to protein, hepatosplenomegaly, lysinuric protein intolerance, secondary juvenile osteoporosis.

Correspondence: L. Cimbalistiene, Department of Human and Medical Genetics, Vilnius University, Vilnius, Santariskiu 2, Lithuania; e-mail:

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