Jul 26, 2023 · Homocystinuria (HCU) is a rare genetic disorder that affects your body’s ability to process the amino acid homocysteine. With this disorder, a harmful buildup of homocysteine in your blood and pee (urine) can occur.

The term homocystinuria describes an increased excretion of the thiol amino acid homocysteine in urine (and incidentally, also an increased concentration in plasma). The source of this increase may be one of many metabolic factors, only one of which is CBS deficiency.

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....

Jul 29, 2023 · Homocystinuria (HCY) is a rare condition that interferes with your body’s ability to break down a protein from the food you eat. Protein is made of smaller...

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. Normally, our bodies break down protein foods like meat and fish into amino acids, which are the "building blocks" of protein.

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 inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.

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 …