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


, : First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. Journal of Applied Genetics 48(3): 277-280

We report on an 18-year-old Lithuanian girl with hepatosplenornegaly 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 hyperammonaernia, 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. Citrullinaernia 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 SLC7A 7 gene, confirming the diagnosis.

US$19.90

PMID: 17666782

DOI: 10.1007/BF03195224


Other references

Shogren, R.L., 1993: Effect of moisture content on the melting and physical ageing of high-amylose cornstarch. Abstracts of Papers American Chemical Society 206(1-2): CARB 10

Kitamura T.; Moriguchi S.; Terada E.; Saito K.; Futakumi K., 1980: The clinical effect of plaque control of a dentifrice containing dextranase. Dextranase is an effective plaque control agent which enzymatically resolves and removes dental plaque. The effect on plaque control of dextranase prepared from Chaetomium gracile and added to a dentifrice was examined in clinical tests. Male subj...

Okumura M.; Kondo F.; Sakakibara H.; Ishikawa N., 1991: Effect of microcystins on cardiovascular and respiratory systems. Japanese Journal of Pharmacology 55(SUPPL 1): 140P

Neudeck, B.L.; Loeb, J.M.; Faith, N.G.; Czuprynski, C.J., 2002: Intestinal P-glycoprotein is important for mucosal defense against Listeria monocytogenes infections. Pharmacotherapy 22(10): 1339, October

Brent, J.; McMartin, K.; Phillips, S.; Burkhart, K.K.; Donovan, J.W.; Wells, M.; Kulig, K., 1999: Fomepizole for the treatment of ethylene glycol poisoning. Methylpyrazole for Toxic Alcohols Study Group. Ethylene glycol poisoning causes metabolic acidosis and renal failure and may cause death. The standard treatment is inhibition of alcohol dehydrogenase with ethanol, given in intoxicating doses, and adjunctive hemodialysis. We studied the efficac...

Frayha, R.; Melhem, R.; Idriss, H., 1979: The Kniest (Swiss cheese cartilage) syndrome. Description of a distinct arthropathy. A boy with the Kniest (Swiss cheese cartilage) syndrome was reported and the salient features of this rare chondrodystrophy were described. The unique polyarthropathy of this syndrome was characterized by symmetrical bony joint enlargements and fi...

Hirsh, I.J., 1980: Acoustical research in the life sciences. This paper briefly reviews research progress during the past 50 years in physiological and psychological acoustics. Special attention is paid to the physiology of the auditory system, sound conduction in the ear, cochlear mechanics, masking, audit...

Boardman, D.L.; Collier, H.O., 1946: The effect of magnesium deficiency on neuro-muscular transmission in the shore crab carcinus maenas. Journal of Physiology 104(4): 377-383

Simmons R.G.; Abress L., 1988: Quality of life and rehabilitation differences among alternate end stage renal disease therapies. Transplantation Proceedings 20(1 SUPPL 1): 379-380

Ciani, S.; Gliozzi, A., 1968: Electrical properties of liquid ion-exchange membranes with dissociated sites. Biophysik 5(2): 145-156