homocystinuria


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homocystinuria

[‚hō·mō‚sis·tə′nu̇r·ē·ə]
(medicine)
A hereditary disease characterized by a deficiency of the enzyme serine dehydratase causing incompletely dislocated lenses after the age of 10, thromboembolisms, and usually mental retardation.
References in periodicals archive ?
Comment: Individuals with the rare genetic disease homocystinuria have markedly elevated plasma homocysteine levels and develop osteoporosis at an early age.
tHcy is used as a marker for vitamin deficiency, cardiovascular diseases, type 2 diabetes, homocystinuria and other diseases.
Homocystinuria -- One (1) grant of up to $30,000 for a clinical research study related to the diagnosis and/or treatment of Homocystinuria due to Cysathionine Beta-Synthase Deficiency.
Homocystinuria is an autosomal recessive condition affecting the metabolism of the amino acid, methionine, which in turn leads to a build-up of the amino acid homocysteine in blood and urine.
Cystathionine beta-synthase mutations in homocystinuria.
The new test will also check for maple syrup urine disease, homocystinuria, glutaric acidaemia type 1 and isovaleric acidaemia.
These conditions are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
The Newborn Blood Spot Screening Programme has been extended from January 5, to screen for an additional four rare, but potentially disabling, conditions which are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
From early next year, 'heel prick' blood samples taken from newborn babies will be tested for four additional metabolic disorders - glutaric aciduria type 1, homocystinuria, isovaleric acidaemia and maple syrup urine disease.
There are a lot of these diseases like homocystinuria and others that have genetic basis, Professor Christakis buttressed.
Krabbe disease, homocystinuria, and even phenylketonuria have presented in adulthood.
Methionine metabolism in mammals: The biochemical basis for homocystinuria.