Homocystinuria (HCU): Symptoms, Causes & Treatment - Cleveland Clinic
2023年7月26日 · 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 - Wikipedia
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: Causes, Symptoms & Diagnosis - Healthline
2017年3月31日 · Homocystinuria is an inherited disorder that keeps the body from processing the essential amino acid methionine. Amino acids are the building blocks of protein....
Homocystinuria | About the Disease | GARD - Genetic and Rare …
An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum.
Homocystinuria: MedlinePlus Genetics
Homocystinuria is an inherited disorder in which the body is unable to process certain amino acids properly. Explore symptoms, inheritance, genetics of this condition.
What Is Homocystinuria? - WebMD
2023年7月29日 · 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...
Homocystinuria: Causes, Symptoms, and Treatment Options
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 …
Homocystinuria - NHS
2018年5月9日 · 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: Causes, symptoms, and tests - Medical News Today
2020年1月3日 · 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 | Newborn Screening
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.
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