Sexy_lady22 - Kaneva Profile

Sexy_lady22

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Angel

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Homocyturia -a are gentic disorder that I lived wi

Sexy_lady22

Jennifer Lee

Sexy_lady22

Canada

Female

40 Years Old

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http://www.kaneva.com/angel

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Member Since: 11/3/2007
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Relationship: Married, Orientation: Straight, Religion: Other, Ethnicity: White, Children: One day, Education: High School, Height: 5 feet-8 inches, Smoking: No, Drinking: Yes

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AboutThat

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	Texture sets to decorate your 3d virtual home with. All of these sets have been designed by me and are free for members to use on their Kaneva homes.

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	If your into bondage or "knot" everyone will love something about this place!

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About Me

I am a people person and love working with people. I love helping people when they are down and I do whatever I can help my friends to feel better about themselves. I also have the passion for animals! I created web sight to help people who have the same genetic disorder as I do. Also created chat group. Please raved my friends here on Kaneva and me if you see them. They deserve that. I would like to thank my friends for beening so nice to me and for people who i don't know want for adding me on their list. Thanks Kavena - a great group here. Come by at my place and have fun on the danse floor and if you stop by then rave it-please

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facebook, Basic Webpaging, Scrapbooking. Kavena and dancing

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Joe place for country

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stephen king

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What fashion, I am me and like my own style

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Don't drive

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Anything for cancer and children. Battary women

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Cuba and Florida, Kavena

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my computer

Games

Duke Nukem 3D and Pack Man

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in this world

I'd like to visit

california, Hawwaii

Movies

Horror Moves, Action and Romance, Thrillers... I love a good scare.

Music

Messy songs and the oldies but the goodies, Old School Metal and paino music, Picture by Kid Rock and Cheryl Crow. Rock

My Goals

to keep in touch with friends in this world

Quotes

Just be yourself

Sports

Pilates, Roller Sakting, swimming

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CSI, Days of lives, General Hosptial

Blogs

Mar 29, 2008
Homocysturia -what i live with every day of my life and what i have to worry about

What is homocystinuria?

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 the condition is caused by the lack of an enzyme called cystathionine beta-synthase. This form of homocystinuria is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases.

Less common forms of homocystinuria are caused by a lack of other enzymes involved in processing amino acids. These disorders can cause mental retardation, seizures, problems with movement, and a blood disorder called megaloblastic anemia.

How do people inherit homocystinuria?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Although people who carry one mutated copy and one normal copy of the CBS gene do not have homocystinuria, they are more likely than people without a CBS mutation to have vitamin B12 and folic acid deficiencies.

What is it?
Homocystinuria (HCY) is a hereditary error of metabolism. It is usually caused by a defective enzyme (cystathionine synthetase) needed to properly digest a component of food called methionine (an amino acid).
nheritance and Frequency
Homocystinuria is thought to be inherited as an autosomal recessive genetic trait, which means the gene defect is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

Studies conducted since 1979 show that 1 of every 200,000 live births in the United States will have Homocystinuria. Prevalence in Great Britain, Ireland, and Australia is approximately is 1 in 82,000 live births.

Signs & Symptoms
Symptoms associated with Homocystinuria may include mental retardation, seizures, psychiatric disturbances, delays in reaching developmental milestones (e.g., crawling, walking, sitting), displacement of the lens of the eye (ectopia lentis), abnormal thinning and weakness of the bones (osteoporosis and scoliosis ), and/or the formation of blood clots (thrombi) in various veins and arteries that may lead to life-threatening complications.

Long Term Effects
Optic lens dislocation may occur even with early treatment. Approximately 50% of untreated individuals die before age 25.

Treatment
Homocystinuria is treated initially by changing the baby to a formula that does not contain methionine. Treatment may also include a methionine-restricted and cystine-supplemented diet, as well as large doses of Vitamin B6.

+236200 GeneTests, Links
HOMOCYSTINURIA

Alternative titles; symbols
CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
CBS DEFICIENCY
CYSTATHIONINE BETA-SYNTHASE, INCLUDED; CBS, INCLUDED
HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE, INCLUDED
Gene map locus 21q22.3
TEXT

DESCRIPTION

Homocystinuria is a metabolic disorder due to cystathionine beta-synthase (EC 4.2.1.22) deficiency producing increased urinary homocystine and methionine. Major clinical manifestations involve the eyes and the central nervous, skeletal, and vascular systems.

CLINICAL FEATURES

Mudd et al. (1985) compiled data on 629 patients with homocystinuria collected from all parts of the world. Among patients not discovered by newborn screening, mental capabilities were higher in B6-responsive patients (mean IQ, 79) than in B6-nonresponsive patients (mean IQ, 57). Time-to-event curves for other major clinical abnormalities were presented as well. For untreated B6-responsive and B6-nonresponsive patients, these were, respectively: chance of dislocation of lenses by age 10, 55% and 82%; chance of having clinically detected thromboembolic event by age 15, 12% and 27%; chance of radiologic detection of spinal osteoporosis by age 15, 36% and 64% and chance of not surviving to age 30, 4% and 23%. When initiated neonatally, methionine restriction prevented mental retardation, reduced the rate of lens dislocation, and may have reduced the incidence of seizures. Pyridoxine treatment of late-detected B6-responsive patients reduced the rate of occurrence of initial thromboembolic events. Following 586 surgical procedures, 25 postoperative thromboembolic complications occurred, of which 6 were fatal. Few abnormalities were found in the offspring of either male or female patients and the evidence was inconclusive concerning the rate of fetal loss from mothers with untreated homocystinuria. Among patients detected neonatally, only 13% were B6-responsive as compared with 47% among late-detected B6-responders. 30 PubMed Neighbors

In a sibship of 6, Visy et al. (1991) found 3 sibs with homocystinemia and homocystinuria due to this enzyme deficiency. All 3 came to medical attention because of severe recurrent strokes in adulthood, at ages 23, 24, and 20 years. All 3 had mild mental retardation with IQs in the 80s. Although marfanoid habitus, with long limbs and pectus excavatum, was described, there was no ectopia lentis. Two of the sibs died within a year of clinical onset. 30 PubMed Neighbors

(See sulfocysteinuria (272300), another disorder of sulfur metabolism associated with neurologic defect and ectopia lentis.)

Central Nervous System

Homocystinuria was discovered independently by Gerritsen et al. (1962) in Madison, Wisconsin, and by Carson and Neill in Belfast, Northern Ireland. The patients of both groups were studied because of mental retardation.

Abbott et al. (1987) evaluated 63 patients with homocystinuria for psychiatric disturbance, intelligence, evidence of other CNS problems, and responsiveness to vitamin B6. Clinically significant psychiatric disorders were found in 51%. The average IQ was 80; IQ was lower among vitamin B6-nonresponsive patients. 30 PubMed Neighbors

About one-third of homocystinuric subjects have normal intelligence.

Yap et al. (2001) studied mental capabilities of 23 pyridoxine-nonresponsive individuals with cystathionine beta-synthase deficiency with over 339 patient-years of treatment and compared these individuals to those of 10 unaffected sibs (controls). Of the 23 individuals, 19 were diagnosed through newborn screening with early treatment, 2 were late-detec

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