Disorders of Amino Acid Metabolism - HCY
Homocystinuria (HCY) is caused by an enzyme deficiency that blocks the metabolism of homocysteine and occurs in approximately 1 in every 68,000 (Ireland). The major clinical features include optical dislocation (affecting 80% of HCY by age 15), mental retardation, osteoporosis and thromboembolism causing death in 50% of HCY by age 20 and 75% by age 30. With early detection, strict dietary management and vitamin supplements, growth and development should be normal.
Disorders of Amino Acid Metabolism
MSUD Maple Syrup Urine Disease