Resembles Marfan's syndrome - due to lack of cystanthionine synthase.
A metabolic abnormality characterized by excessive amounts of the amino acid homocystine in the urine. Homocystinuria, which may be transmitted as an autosomal recessive trait, may result from deficient activity of certain enzymes involved in the metabolic conversion of the amino acid methionine to cysteine. Associated symptoms and findings often include developmental delay; dislocated lens of the eyes (ectopia lentis); thin, weak muscles; progressive mental retardation; psychiatric abnormalities; skeletal defects; blockage of a blood vessel by a piece of a blood clot (thrombus) carried in the bloodstream (thromboembolism); and/or other abnormalities.
An inherited disease caused by the absence of an enzyme essential to the metabolism of homocystine
A rare hereditary disease due to a deficiency of an enzyme needed to prevent the build up of homocysteine in the blood.
a genetic disorder in which an enzyme deficiency causes a substance called homocystine to build up in the blood, leading to mental handicap and skeletal abnormalities
A genetic disease due to an enzyme deficiency. Among other events, there is a buildup of the amino acid homocystine. Progressive mental retardation is common in untreated cases. The finding of vascular disease and premature arteriosclerosis in persons with homocystinuria led to the theory that homocystine may be a factor in heart disease. See the entire definition of Homocystinuria
an inherited disorder caused by a deficiency of an enzyme necessary to digest an amino acid.
an inherited disorder in which the body cannot break down the amino acid methionine. Symptoms and effects of homocystinuria include nearsightedness, failure to thrive, and mental retardation. In most states, newborns are screened for homocystinuria. Treatment, which includes a special diet and medication, can prevent or minimize some of the effects.
Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected. This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system.