Examples of 'homocystinuria' in a sentence
Meaning of "homocystinuria"
Homocystinuria (noun): A rare genetic disorder that affects the body's metabolism of the amino acid methionine. It can lead to various health problems such as developmental issues, blood clots, and visual abnormalities
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- An inherited metabolic disorder characterised by the presence of homocysteine in the urine
How to use "homocystinuria" in a sentence
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homocystinuria
People with homocystinuria die at an early age.
Patients with methylmalonic acidemia with or without homocystinuria.
Homocystinuria is a rare inherited disorder due to a deficiency in cystathionine beta synthase.
The life expectancy of patients with homocystinuria is reduced if untreated.
The medicine was effective in patients with all three types of homocystinuria.
There are at least two types of homocystinuria caused by cystathione synthetase deficiency.
Cystadane is used to treat homocystinuria.
Homocystinuria is due to elevated levels of homocysteine in the plasma of the affected patient.
See also homocystinuria.
There are other forms of methylmalonic acidemia that occur without homocystinuria.
The aims of treatment in classical homocystinuria vary according to the age of diagnosis.
Several products are available commercially for the nutritional support of homocystinuria.
About half of the diagnosed cases of homocystinuria are associated with mental retardation.
Genetic counseling is recommended for prospective parents with a family history of homocystinuria.
As well as homocystinuria.
See also
Homocystinuria is a rare genetic disorder caused by any one of three inborn errors of metabolism.
Cystadane treatment should be supervised by a physician experienced in the treatment of patients with homocystinuria.
The MTHFR mutations that cause homocystinuria are typically not detected by this test.
Studies in animal models show a possible role of oxidative stress in the pathophysiology of homocystinuria.
Statistics of Homocystinuria.
Homocystinuria due to cystathionine beta-synthase.
B6 can significantly lower chances of developing homocystinuria and sideroblastic anemia.
New-born screening exists for a variety of conditions such as phenylketonuria, galactosemia and homocystinuria.
Homocystinuria due to cystathionine beta-synthase deficiency - the effects of betaine treatment in pyridoxine-responsive patients.
Combined methylmalonic acidemia and homocystinuria is an inborn error of metabolism of vitamin B12 or cobalamin.
The use according to Claim 31 for manufacturing a composition for nutritional support of homocystinuria.
More recently, Homocystinuria was suggested as a possible diagnosis.
For the dietary management of Homocystinuria ( HCU ).
Classical homocystinuria is due to a deficiency in cystathionine beta synthase ( CBS ).
Vitamin B6 lowers the risk of homocystinuria and sideroblastic anemia.
Homocystinuria has several features in common with Marfan syndrome, including joint and eye changes.
Benjamin was diagnosed with homocystinuria ( HCY ) through newborn screening and he received immediate treatment.
Certain types of homocystinuria ( HCY ) can be treated with prescription vitamin B6 supplements.
Introduction, classical homocystinuria ( hcu ) is a genetic disease caused by cystathionine ¿ - synthase ( c ¿ s ) deficiency.
