Glossary for Homocystinuria due to cystathionine beta-synthase deficiency

• Blood clot: A coagulum that is located in the blood stream due to the aggregation of blood factors
• Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
• Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
• Death: The cessation of life
• Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
• Glaucoma: Glaucoma is the term for a diverse group of eye diseases, all of which involve progressive damage to the optic nerve. Glaucoma is usually, but not always, accompanied by high intraocular (internal) fluid pressure. Optic nerve damage produces certain characteristic visual field defects in the individual's peripheral (side), as well as central, vision.
• Heart attack: Serious and often fatal acute heart condition
• High arched palate: A condition where the roof of the mouth is higher in the mouth than normal.
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
• Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
• Lens dislocation: The dislocation of the lens of the eye
• Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
• Metabolic disorders: Disorders that affect the metabolic system in human
• Myopia: Short-sightedness often requiring glasses
• Noble-Bass-Sherman syndrome: A very rare syndrome characterized by various eye anomalies.
• Seizures -- intellectual deficit due to hydroxylysinuria: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
• Stroke: Serious brain event from bleeding or blood clots.
• Urinary system conditions: Medical conditions affecting urination, urinary organs or the urinary system.

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