A rare genetic disease characterized by a high level of homocystine in the urine due to an error in the gene for the vitamin B6-dependent enzyme cystathionine synthetase.
Homocystinuria is a congenital disease due to the inability of the affected individual to metabolise, or to utilise properly, one of the essential amino acids known as methionine. The main features of the condition are abnormality of the lens of the eye, learning disability, and a tendency to thromboses (blood clots).
An inherited disease caused by the absence of the enzyme essential to the metabolism of homocystine. Patients are mentally retarded and have subluxated lenses, a tendency toward seizures, liver disease, an increased risk of atherosclerosis and blood clotting disorders, and growth retardation (short stature).
Homocystinuria is an uncommon, inherited disorder arising from an enzyme deficiency. It belongs to the category of inborn errors of metabolism, leading to an abnormal accumulation of homocystine (an amino acid) in the blood and urine. People affected by this condition might exhibit tall stature with elongated limbs and fingers. Additionally, some individuals may experience skeletal deformities and abnormalities of the eye lens. Although there is no cure for homocystinuria, a special diet can help improve the condition.