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hyperprolinemia : ウィキペディア英語版 | hyperprolinemia
Hyperprolinemia, also referred to as prolinemia or prolinuria, is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline oxidase or pyrroline-5-carboxylate dehydrogenase, causing a buildup of proline in the body. ==Types== ===Hyperprolinemia type I=== It is difficult to determine the prevalence of hyperprolinemia type I, as many people with the condition are asymptomatic.〔(【引用サイトリンク】work= Genetics Home Reference )〕 People with hyperprolinemia type I have proline levels in their blood between 3 and 10 times the normal level. Some individuals with type I exhibit seizures, mental retardation or other neurological problems.〔
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