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Homocystinuria

Homocystinuria is a genetic disease in which incorrect metabolism of the amino acid methionine causes the amino acid homocysteine to accumulate in the blood and higher levels to be excreted in the urine.

Amino acids are the building blocks of proteins. After eating proteins, the body breaks them down into amino acids. Animal proteins include dairy products, meat, eggs and fish. Proteins are also found in plants including soy, legumes, grains and nuts. The body uses the amino acids to make its own proteins essential for life – for example enzymes; structural proteins in muscles, hair, skin, cells and cartilage; proteins that generate movement in muscles; or those involved in cell functioning or immune responses. In periods of starvation, amino acids can be redirected to generate energy for the body. Methionine is present in animal and plant proteins, especially sesame seeds, nuts, spinach, mushrooms, broccoli, potatoes, fish and meat. However, homocysteine is produced only by our bodies as part of the processing of methionine.

Raised homocysteine levels in the blood adversely affect multiple areas of the body including the eye, muscles, connective tissue, brain and blood vessels. The most serious complications are related to the damage to blood vessels. High levels of homocysteine in the blood promote atherosclerosis or ‘hardening’ of the arteries. Besides occurring in individuals with homocystinuria, atherosclerosis is more commonly seen in adults with a history of diabetes, smoking, high blood pressure and high blood levels of ‘bad’ cholesterol. In atherosclerosis, the walls of large and medium arteries become inflamed, less elastic and more likely to form fatty lumps or ‘plaques’. The plaques can block the blood vessels, reducing or preventing blood flow to the organ that the artery supplies. The consequences can be life-threatening. The exact event will depend on the site of the blockage. For example, a heart attack can occur if the obstruction stops blood flow to the heart. Blockage in the deep vein of the leg, pelvis or sometimes the arm can result in deep vein thrombosis (DVT). If the clot from a DVT breaks free, it can travel in the circulation and impede blood supply to the lungs causing pulmonary embolism. Finally, a stroke could occur if the brain is affected.

HCP Information for Homocystinuria

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