What is homocystinuria?

homocystinuria, also called the lack of cysthionin beta-synthase, is a genetically inherited disorder that causes dysfunctional metabolism of amino acids called methionine. Children born with this disorder are endangered by intellectual disabilities, seizures and thrombosis if they are not diagnosed and treated quickly. There is no cure for homocystinuria, but early treatment can prevent the worst symptoms developing. This means that genes involved in the development of the failure are not placed on sex chromosomes. In addition, the disorder is recessive, which means that the child was born with a disorder that both parents must carry and pass on a defective copy of the gene. The disorder is rare, with a global frequency of approximately 1 of 344 000. People with this disorder cannot metabolize methionine. This leads to the accumulation of a protein called homocysteine ​​that damages elastic and collagen fibers mThe leg of muscle types and is toxic in brain tissue. People with disorder have reduced life expectancy, especially if the diagnosis is not made at the beginning of life.

signs of homocystinuria are evident in the central nervous system and cardiovascular system as well as in muscles and connective tissue. Possible symptoms of disorder include intellectual disability, increased risk of thrombosis, increased risk of psychiatric disorders, seizures, glaucoma, nearsightedness, eye muscle atrophy and arterial swelling. Children born with a disorder also tend to share certain physical properties, including long limbs, knock-rounds and legs with high arche.

homocystinuria is not curable, but can be administered with suitable diet and certain types. Approximately 50% of people with disorder can be effectively treated with regular high doses of vitamin B6 and require no further treatment. People who do not respond positively to this treatment, perhapsThey will have to follow a special food. The recommended diet has a low protein content and especially low methionine and some other amino acids. This diet helps to reduce the speed at which homocystein accumulates in the body.

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low methionine diet must be used in conjunction with a drug called betaine that converts homocysteine ​​into methionine. This further reduces the accumulation rate of homocysteine, allowing me to integrate methionine into the body's proteins. Drugs constantly convert a small amount of homocysteine ​​into methionine, but cannot keep up with a rapid pace of homocysteine ​​production; Medicines must therefore be used in conjunction with low-methionine diet. Together, medicines and diet can prevent the toxic levels of homocysteine ​​accambulation and prevent symptoms of disease development.

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