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- n. An inherited metabolic disorder characterised by the presence of homocysteine in the urine
Sorry, no etymologies found.
This genetic abnormality is called homocystinuria.
Aminoacidopathies (maple syrup urine disease; homocystinuria; cobalamin deficiencies; tyrosinemia; urea cycle defects (ornithine transcarbamylase, carbamyl phosphate synthase, citrullinemia, argininosuccinic aciduria, arginase deficiencies) and non-ketotic hyperglycinemia)
McCully discovered just how dire back in 1968, while studying a rare genetic disorder called homocystinuria.
These include phenylketonuria (PKU), maple syrup urine disease (MSUD) and homocystinuria (HCU).
Angiography should be avoided whenever possible in patients with homocystinuria, because of the risk of inducing thrombosis and embolism.
The research was aimed at determining the local incidence of congenital diseases, such as hypothyroidism, adrenal hyperplasia, phentlketonuria, galactosemia and homocystinuria.
Janosik M, Kozich V, Mandell R, Shih V, et al. (1999) Cystathionine beta-synthase mutations in homocystinuria.