A rare, inherited condition caused by an enzyme deficiency. Homocystinuria is a type of inborn error of metabolism (see metabolism, inborn errors of) in which there is an abnormal presence of homocystine (an amino acid) in the blood and urine. Affected people are very tall, with long limbs and fingers. Some have skeletal deformities and abnormalities of the eye lens. The condition is incurable but may be improved by a special diet.
Homocystinuria |
|
|