Naslov
Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene : a case report

Autori
Zekušić, Marija ; Škaričić, Ana ; Fumić, Ksenija ; Rogić, Dunja ; Žigman, Tamara ; Petković Ramadža, Danijela ; Vukojević, Nenad ; Rüfenacht, Véronique ; Uroić, Valentina ; Barić, Ivo

Izvornik
Biochemia Medica: The journal of The Croatian Society of Medical Biochemistry and Laboratory Medicine (1330-0962) 28 (2018), 3; 514-522

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
ornithinemia ; amino acids ; tandem mass spectrometry

Sažetak
Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive disorder that occurs due to deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT). Hyperornithinemia causes degeneration of the retina with symptoms like myopia, reduced night vision and progressive vision loss. Our patient is a 10-year-old girl with impaired vision and strabismus. As part of the metabolic work-up, plasma amino acid analysis revealed significantly increased concentration of ornithine (1039 μmol/L ; reference interval 20 - 155 μmol/L). Molecular genetic analysis revealed homozygous mutation in exon 7 of the OAT gene that has not been reported previously (c.868_870delCTT p.(Leu290del)). This in frame deletion was predicted to be deleterious by in silico software analysis. Our patient was treated with pyridoxine (vitamin B6 in a dose of 2 x 100 mg/day), low-protein diet (0.6 g/kg/day) and L-lysine supplementation which resulted in a significant reduction in plasma ornithine concentrations to 53% of the initial concentration and the ophthalmologic findings showed significant improvement. We conclude that low protein diet and lysine supplementation can lead to long-term reduction in plasma ornithine concentrations and, if started at an early age, notably slow the progression of retinal function loss in patients with GA. The effect of therapy can be reliably monitored by periodical measurement of plasma ornithine concentration. To our knowledge, this is the first report of OAT deficiency in Croatia.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

Napomena
Division of Metabolism, University Children’s Hospital, Zürich, Switzerland.

POVEZANOST RADA