Svensk definition
Medfödd störning i metiononomsättningen som leder till överskott av homocystein i blodet. Den beror oftast på brist på enzymet cystationinbeta-syntas och utgör en risk för kranskärlsjukdom.
Hyperhomocysteinemia
Hyperhomocysteinemi
Engelsk definition
Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 µmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Hyperhomocysteinemias