Homocystinuria (HCU): Symptoms, Causes & Treatment - Cleveland Clinic
Homocystinuria is a genetic disorder that causes a buildup of homocysteine in your blood and urine. Homocysteine is an amino acid. With this disorder, your body lacks an enzyme that it needs to break down homocysteine properly. The condition can cause symptoms involving your eyes, bones, brain and heart.
Homocystinuria - Wikipedia
Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and …
Homocystinuria: Causes, Symptoms & Diagnosis - Healthline
2017年3月31日 · Homocystinuria is an inherited disorder that keeps the body from processing the essential amino acid methionine. Amino acids are the building blocks of protein. Methionine...
Homocystinuria: MedlinePlus Genetics
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form of homocystinuria, called classic homocystinuria, is characterized by tall stature, nearsightedness (myopia), dislocation of the lens at the front of the eye, a higher risk of blood ...
Homocystinuria | About the Disease | GARD - Genetic and Rare …
Homocystinuria refers to a group of inherited disorders in which the body is unable to process certain building blocks of proteins (amino acids) properly. This leads to increased amounts of homocysteine and other amnio acids in the blood and urine.
高胱氨酸尿症 - 百度百科
高胱氨酸尿症或称同型胱氨酸尿症(homocystinuria)又称假性Marfan综合征，是含硫氨基酸代谢病之一为常染色体遗传性代谢性疾病，突变基因可能位于2号染色体短臂，首先由Carson和Neill以及Gerritsen等(1962)分别报告。
同型胱氨酸尿症 - 同型胱氨酸尿症 - 《默沙东诊疗手册大众版》
同型胱氨酸尿症是一种氨基酸代谢紊乱，是由于缺乏代谢一种氨基酸（即同型半胱氨酸）所需的胱硫醚 β-合成酶引起的。 这种疾病会导致许多症状，包括视力下降、智力障碍和骨骼异常。 当父母将导致这种疾病的缺陷基因遗传给孩子时，就会发生同型胱氨酸尿症。 同型胱氨酸尿症是由于缺乏代谢同型半胱氨酸所需的酶引起的。 症状包括智力障碍、眼睛问题和骨骼异常。 根据血液检查可做出诊断。 特殊饮食和维生素 B6、甜菜碱以及叶酸补充剂可能对某些孩子有帮助。 氨基酸是 …
Homocystinuria/Homocysteinemia: Overview, Pathophysiology, …
Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and...
Homocystinuria - NHS
2018年5月9日 · Homocystinuria (HCU) is a rare but potentially serious inherited condition. It means the body can't process the amino acid methionine. This causes a harmful build-up of substances in the blood and urine. Normally, our bodies break down protein foods like meat and fish into amino acids, which are the "building blocks" of protein.
Homocystinuria - Homocystinuria - Merck Manual Consumer Version
Homocystinuria is a disorder of amino acid metabolism that is caused by a lack of the enzyme cystathionine beta-synthase, which is needed to metabolize the amino acid homocysteine. This disorder can cause a number of symptoms, including decreased vision, intellectual disability, and skeletal abnormalities.