Homocystinuria is a genetic disorder that causes a buildup of homocysteine in your blood and urine. Homocysteine is an amino acid. With this disorder, your body lacks an enzyme that it needs to break down homocysteine properly. The condition can cause symptoms involving your eyes, bones, brain and heart. Treatment includes vitamin B6 supplements.

Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and …

Homocystinuria is an inherited disorder in which the body is unable to process certain amino acids properly. Explore symptoms, inheritance, genetics of this condition.

Homocystinuria refers to a group of inherited disorders in which the body is unable to process certain building blocks of proteins (amino acids) properly. This leads to increased amounts of homocysteine and other amnio acids in the blood and urine.

Mar 31, 2017 · Homocystinuria is an inherited disorder that keeps the body from processing the essential amino acid methionine. Amino acids are the building blocks of protein....

May 9, 2018 · Homocystinuria (HCU) is a rare but potentially serious inherited condition. It means the body can't process the amino acid methionine. This causes a harmful build-up of substances in the blood and urine.

Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form of homocystinuria, called classic homocystinuria, is

Jan 3, 2020 · Homocystinuria is a genetic condition in which the body is unable to break down certain proteins. Find out more about its symptoms and causes here.

Homocystinuria is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking CBS gene to their baby. Only babies with two nonworking CBS genes—one from the mom and one from the dad—have this condition.

Homocystinuria is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disease. The condition primarily results from mutations in the CBS gene, which encodes the …