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First reported case of lysinuric pratein intolerance [LPI] in Lithuania, confirmed biochemically and DNA analysis

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Cimbalostiene L., Lehnert W., Huopoen K., Kucinskas V.

Journal of Applied Genetics

2007

tom 48

nr 3

277-280

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 ofLPI was made on the basis of biochemical and clinical features. Molecular genetic testing revealed a mutation in the SLC7A7 gene, confirming the diagnosis.

Ograniczanie wyników

1 Journal of Applied Genetics

1 Cimbalostiene L.

1 Huopoen K.

1 Kucinskas V.

1 Lehnert W.

1 2007

Wyniki wyszukiwania

First reported case of lysinuric pratein intolerance [LPI] in Lithuania, confirmed biochemically and DNA analysis