Ornithine aminotransferase deficiency

Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by elevated levels of ornithine in the blood. Clinically, it presents initially with poor night vision, which slowly progresses to total blindness. It is believed to be inherited in an autosomal recessive manner. Approximately 200 known cases have been reported in the literature. The incidence is highest in Finland, estimated at 1:50,000.

单词	Gyrate atrophy of the choroid and retina
释义	Gyrate atrophy of the choroid and retina 英语百科 Ornithine aminotransferase deficiency Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by elevated levels of ornithine in the blood. Clinically, it presents initially with poor night vision, which slowly progresses to total blindness. It is believed to be inherited in an autosomal recessive manner. Approximately 200 known cases have been reported in the literature. The incidence is highest in Finland, estimated at 1:50,000.
随便看	atr technique atrteriovenous shunt atrtrium cordis ATR tube a truce to a truck a truckload atructural chromosomal abnormality a true blue atruistic at ruling rate atrum dextra A. truncatum a trunk Atrus atrusia of trachea atrwork atry Atrypa Atrypacea Atrypella Atrypidina Atrypina Atrypinella atrypoid

Gyrate atrophy of the choroid and retina

Ornithine aminotransferase deficiency