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.
Folic acid, vitamin B12, and osteoporosis
tHcy is used as a marker for vitamin deficiency, cardiovascular diseases, type 2 diabetes, homocystinuria and other diseases.
Bioo Scientific Launches Enzymatic Assay for Accurate Homocysteine Analysis in Model Organisms
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.
Research Grants for Rare Disease Research Available from National Organization for Rare Disorders (NORD); Deadline to Submit Abstracts or Letters of Intent is July 31
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.
Associations of high myopia in childhood
Cystathionine beta-synthase mutations in homocystinuria.
Newly identified risks of excess homocysteine
The new test will also check for maple syrup urine disease, homocystinuria, glutaric acidaemia type 1 and isovaleric acidaemia.
Newborn screening programme expanded
These conditions are homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
Hospital backs baby test expansion
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).
Test for rare diseases expanded
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.
New screening tests on way for newborns
There are a lot of these diseases like homocystinuria and others that have genetic basis, Professor Christakis buttressed.
Paediatric Institute to have Middle East branch soon
Krabbe disease, homocystinuria, and even phenylketonuria have presented in adulthood.
Commentary: although many inborn errors of metabolism (IEMs) present in the first few months of life
Methionine metabolism in mammals: The biochemical basis for homocystinuria.
In utero alcohol exposure, epigenetic changes, and their consequences
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