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Galactosemia

Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose and galactose. Normally, galactose is then converted into glucose by the enzyme GALT (galactose-1-phosphate uridylyltransferase). In individuals with galactosemia, GALT activity is severely diminished, leading to toxic levels of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver), renal failure, cataracts, and brain damage. Without treatment, mortality in infants with galactosemia is about 75%. more...

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Goppert first described the disease in 1917. Its incidence is about 1 per 47,000 births (classic type). It is much rarer in Japan.

Types

There are two variants of the gene responsible for galactosemia.

  • One variant causes so-called classic galactosemia, in which there is an extreme deficiency in galactose-1 phosphate uridyltransferase. It is an autosomal recessive condition. The gene for GALT was mapped at 9p13. Most serious conditions are prominant.
  • The variant gene, responsible for Duarte galactosemia, leads to about half the normal levels of GALT. Individuals with Duarte galactosemia may experience few or none of the serious symptoms of classic galactosemia.

The severity of the symptoms is dependent on a number of factors, most importantly the amount of lactose in the individual's diet. It is also possible to have one each of the classic and Duarte genes, in which case GALT activity is intermediate.

Diagnosis

Infants are now routinely screened for galactosemia in the United States, these diagnoses are often made early.

Treatment

The only treatment for classic galactosemia is eliminating lactose and galactose from the diet. Even with an early diagnosis and a restricted diet, however, some individuals with galactosemia experience long-term complications such as learning disability, and in girls, ovarian failure. Such complications have not been associated with Duarte galactosemia, and many individuals with Duarte galactosemia do not need to restrict their diet at all.

Galactosemia is sometimes confused with lactose intolerance, but the galactosemia is a more serious condition. Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase, and experience abdominal pains after ingesting dairy products, but no long-term effects. In contrast, a galactosemic individual who consumes galactose can cause permanent damage to their bodies.

Reference

  • Goppert F. Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden. Klin Wschr 1917;54:473-477.

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When Menopause Comes Early
From Friend Indeed, A, 5/1/05 by Rogers, June

Like most girls her age, Karen began menstruating at age 12. Six years later, however, her periods stopped altogether, she gained weight and experienced "terrible, intense hot flashes." After several blood tests, her doctor informed her that she was in menopause. "When I found out, I burst into tears," she says. "The first words that came out of my mouth were, I haven't even had children yet.'" Being so young, she couldn't comprehend what was happening to her. For the longest time, she kept it to herself and told no one.

Premature Ovarian Failure (POF) or early menopause is defined as the cessation of periods before the age of 40. It is estimated to affect about one to three percent of the female population. Due to its relatively low incidence, premature menopause is not widely studied - or discussed. "It is a neglected topic," says Dr. Jennifer Blake, at Sunnybrook and Women's Health Sciences Centre in Toronto, and spokesperson for the Society of Obstetricians and Gynaecologists of Canada.

The causes

Most baby girls are born with about one million eggs. That number drops to about 300,000 in adolescence. By menopause, no 'eggs remain. In premature menopause, the supply of eggs in the ovaries is exhausted early or the eggs are not functioning properly and as a result, estrogen production ceases. However, it is estimated that about 25 percent of women with premature menopause may still have viable follicles and may ovulate from time to time. Of these women, eight to 10 percent may become pregnant. There is no way to predict the women who may fall into this category.

Premature menopause can be due to a variety of physical conditions and medical treatments. Chromosomal abnormalities such as Turner Syndrome, in which a female is born with one of the two X chromosomes missing or incomplete, can be one reason why a woman may start menopause early. Viral infections, such as the one that causes the mumps, can adversely affect the ovaries, too. Metabolic syndromes associated with premature menopause include thalassemia, hemochromatosis and galactosemia. Similarly, autoimmune disorders (lupus, hypoparadiyroidism, rheumatoid arthritis, diabetes, among others), can interfere with the proper functioning of the ovaries. Full hysterectomies (in which the uterus and the ovaries are removed), chemotherapy or radiation in young women will induce an early menopause. (see AFI article, Induced Menopause by Norma Roberts, May 2000 which addresses, in particular, the special concerns of women with menopause induced as a result of cancer treatments.) Many cases, however, are unexplained, says Dr. Togas Tulandi, professor of obstetrics and gynecology at McGill University in Montreal.

The treatments

Given that women experiencing early menopause will be without the benefit of their own estrogen over the natural course of their child-bearing years, most doctors prescribe hormone therapy until the women reach 50, the average age most women go into menopause. (A woman is considered post menopause when she experiences 12 period-free months in a row.)

The results of the Women's Health Initiative Study in 2002, in which women's risk of heart disease, stroke, breast cancer, dementia and incontinence increased with use of HRT, are not directly relevant to premature menopausal women because all of the 16,608 WHI study subjects were between the ages of 50 to 69. "The results of the WHI study are not at all applicable to women 40 and under," says Dr. Blake. In fact, premature menopausal women are at higher risk of heart disease, osteoporosis, colon cancer, diabetes, and vaginal dryness affecting their sexual functioning, she says. However, no firm statistics on these conditions exist for premature menopausal women because long-term studies have not been conducted in this population, says Dr. Tulandi.

Premature menopausal women need to be followed carefully by their health-care providers. Bone density scans, cholesterol tests and high blood pressure monitoring should be performed on a regular basis - just as they are in post-menopausal women after 50, the average age of menopause. It is also recommended that early menopausal women exercise regularly to reduce the risk of heart disease and osteoporosis. Dr. Tulandi says that they should pay particular attention to dietary needs, such as taking 1,200 to 1,500 mg of calcium a day and keeping saturated fats to a minimum.

Now 36, Karen has been closely watched by her physician. She has had bone density tests and, just recently, a mammogram. Her health is good. For the past 17 years, she has been on hormone therapy. "I feel angry, sad and scared about my situation. I struggle with having to take medication every day and being hot all the time. I realize that it's a part of my life and I have to deal with it."

Coming to terms with her infertility has also been a struggle for Karen. "Having babies is a big part of a woman's life and when it is taken away from you, it is difficult to accept." It is especially difficult for Karen because her doctor could not pinpoint a reason for her premature menopause, nor is there a family history of the condition. At this time in her life, she and her husband are not thinking about adopting. "Adoption is an option for us, if we want it. There are many children who need good homes, and perhaps that child is waiting for us." Her doctor has ruled out fertility treatments because he says that they would not work in her situation.

Yet Karen remains philosophical. "When you don't have children, many doors open up for you, not close. There is a whole wonderful life to explore and enjoy while we are still young. There are many things that I can do that couples with children can't, and that's not a bad thing. You have to turn the negative around and find the good out of the situation. My husband and I have a good life without children and do take advantage of our freedom. I still consider myself lucky in many ways."

RESOURCES

THE NORTH AMERICAN MENOPAUSE SOCIETY

(www.menopause.org) posts a publication online called The Early Menopause Guidebook. It can also be ordered by dialling 440-442-7550 or e-mail: info@menopause.org

INTERNATIONAL PREMATURE OVARIAN FAILURE (POF) SUPPORT GROUP

(www.pofsupport.org) The site includes the latest research and links to support groups across North America.

EXPERIENCING INFERTILITY: AN ESSENTIAL RESOURCE, by Debby Peoples & Harriet Royner Ferguson

THE DAISY NETWORK

(www.daisynetwork.org.uk)

SURGICAL MENOPAUSE

(www.surgimenopause.com)

NATIONAL INFERTILITY ASSOCIATION

(www.resolve.org)

NO, IT'S NOT HOT IN HERE: A HUSBAND'S GUIDE TO UNDERSTANDING MENOPAUSE, by Dick Roth

Copyright Initiatives for Women's Health, Inc. May/Jun 2005
Provided by ProQuest Information and Learning Company. All rights Reserved

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