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Classic galactosemia presents with multiple problems affecting various organ systems. Early treatment is necessary to prevent devastating effects from this disease and certain life-threatening sequelae. Galactosemia: A Review Review of nursing literature reveals little content addressing galactosemia and/or the care of those with this disorder. Although rare, galactosemia needs to be recognized by nurses as a potentially fatal illness, particularly during the newborn and early infancy periods. Nurses who receive adequate information about the disorder can be better prepared to identify, treat, and monitor these infants. Etiology and incidence. Galactosemia is autosomal recessive in origin (Beutler, 1991); that is, each parent carries a variant gene for the disorder. Although these individuals have less than normal enzyme activity, they appear clinically healthy with little or no symptoms. Since each parent contributes equally to the fetus' gene pool, the possibilities that a child will be born with the disease are enhanced. Combination of two variant genes will result in a 25% chance of producing an offspring with the true form of the disorder (i.e., classic galactosemia). Males and females have an equal chance of having the condition. Classic galactosemia, the most dramatic manifestation, occurs about once in every 62,000 births (Beutler, 1991). Pathophysiology. The infant consumes dietary lactose largely through intake of formula or breast milk. in the intestine, lactose is hydrolyzed to galactose (Donnell, 1990). Galactose is then further metabolized and is converted to glucose with the help of three enzymes present on the red blood cells: galactokinase, 1-phosphate uridyl transferase, and uridine diphosphoglucose 4 epimerase. Figure 1 is a diagram of the metabolic pathway. The absence of any one of these enzymes will block galactose metabolism, and galactose metabolites begin to accumulate Galactosemia: A genetic metabolic disease in which there is a defect in the body's ability to use the sugar galactose. In classic galactosemia, the basic defect is a deficiency of the enzyme known as GALT (galactose-1-phosphate uridyl transferase). This causes an accumulation of galactose 1-phosphate which damages the liver, eye, brain and kidney. Galactosemia is one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can be treated by avoiding galactose in the diet. Galactosemia is inherited as an autosomal recessive trait. There are two forms of the disease, GALT deficiency (classic galactosemia) and galactose kinase deficiency. Of the two, the GALT deficiency is the most severe. The GALT gene is in chromosome 9p13. People with galactosemia are unable to metabolize the simple sugar galactose. Galactose makes up half of the sugar called lactose that is found in milk. Lactose is called a disaccharide, di meaning 2, since lactose is made up of two sugars, galactose and glucose, bound together. If an infant with galactosemia is given milk, galactose builds up in the infants system causing damage to the liver, brain, kidneys and eyes. Individuals with galactosemis cannot tolerate any form of milk (human or otherwise) or any other galactose-containing food. Exposure to milk products will result in liver damage, mental retardation, cataract formation, andkidney failure. Typically, a newborn infant with galactosemia, upon being fed milk, will developjaundice, vomiting, lethargy, irritability, and convulsions. The liver is enlarged and the blood sugar may be low. Continued feeding of milk products to the infant leads to cirrhosis of the liver, cataract formation in the eye resulting in partial blindness, and mental retardation. The symptoms of galactosemia include jaundice (yellowish discoloration of the skin and the whites of the eyes), vomiting, poor feeding, poor weight gain, lethargy, irritability, convulsions, and opacities in the lenses of the eyes. The signs detected include hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), aminoaciduria (amino acids are present in the urine), cirrhosis, ascites (fluid collected within the abdomen), cataracts and mental retardation. The diagnosis is usually based on the demonstration of a lack of activity of the enzyme GALT in erythrocytes (red blood cells). Prenatal diagnosis is also feasible by direct measurement of the enzyme. Once the disease is recognized, treatment consists of strictly avoiding all milk and milk containing products. The infant can be fed with soy formula, meat-base formula, or Nutramigen (a protein hydrolysate formula) or other lactose-free formula. The condition is life-long and requires abstinence from milk and milk products for life. Parents need to take care and educate the child to avoid not only milk and milk products, but also those foods that contain dry milk products. For this reason, it isessential to read product labels and be an informed consumer. If diagnosis is made early and milk products are strictly avoided the prognosis is for a relatively normal life. Despite strict avoidance of galactose mild intellectual impairment may still develop.
twisted veins in the scrotum Infertility Painless testicle lump. and POD. A type of surgery called a "wedge resection" in which a piece of the ovary is removed also helps some women with PCOS. epilepsy. And for women who desire pregnancy. thereby reducing the risk of uterine cancer.they do not release an egg every month -. Symptoms y y y Enlarged. microcephaly (an abnormally small head). For acne and excess hair growth. the name polycystic ovary. the ovaries of women with the disease characteristically contain a large number of small cysts.for PCOS are underway. especially when lying down. especially during childhood. Causes A varicocele forms when valves inside the veins along the spermatic cord prevent blood from flowing properly. scrotal swelling. The sudden appearance of a varicocele in an older man may be caused by a kidney tumor. However. Exams and Tests The health care provider will examine the groin area. Phenylketonuria is inherited in an autosomal recessive manner. Studies have indicated that diabetic medications that are designed to improve the action of the hormone insulin may benefit women with PCOS. Hence. twisted mass along the spermatic cord. Much of this risk can be reversed by exercise and weight loss. The results appear promising.The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or nearcomplete deficiency of the enzyme phenylalanine hydroxylase. Other common names are polycystic ovary disease. The goal is to normalize the levels of phenylalanine and tyrosine in the blood to prevent brain damage. It is clear that if the diet is not followed closely. (This is essentially the same process that leads to varicose veins.) Varicoceles usually develop slowly. Women with PCOS do not ovulate -. and Glucophage (metformin) -. acne. Actos (pioglitazone). . They are more common in men ages 15 . and excess hair growth. and cancer of the uterus (endometrial cancer). leading to swelling and widening of the veins.25 and are most often seen on the left side of the scrotum. PCOS is a disorder of chronically abnormal ovarian function and hyperandrogenism (abnormally elevated androgen levels). Phenylketonuria is abbreviated and commonly referred to as PKU. PCOS is also called the Stein-Leventhal syndrome. Failure of treatment results in profound irreversible mental retardation. Newborns are screened for phenylketonuria (PKU) by a blood test. Varicoceles are often the cause of infertility in men. Polycystic ovarian syndromeis a condition in women characterized by irregular or no menstrual periods. (It feels like a bag of worms. heart disease. some impairment is inevitable. Medication is generally prescribed to induce regular periods. including the scrotum and testicles. Long-term trials of these insulin-sensitizing drugs -.and they are at significantly higher risk for high blood pressure. The doctor may be able to feel a nontender. and behavior problems.) However. This is more common on the left side than the right. polycystic ovary disease. Treatment is with a special diet low in phenylalanine. diabetes. the mass may not be able to be seen or felt. usually with the Guthrie card bloodspot obtained from a heelprick. Maternal phenylketonuria requires a diet low in phenylalanine. Abbreviated PCOS. as are lesser degrees of phenylalanine hydroxylase deficiency. Varicocele A varicocele is a widening of the veins along the cord that holds up a man's testicles. which are common in the legs.obesity. the diuretic spironolactone(Aldactazide) can help. It affects 5%-10% of women of reproductive age. or bulge within the scrotum There may not be symptoms.such as Avandia (rosiglitazone). This causes the blood to back up. The cause of PCOS is unknown. which can block blood flow to a vein. clomiphene (Clomid) can be used to induce ovulation.
as more people with CF survive childhood. which was worse when their chest disease was most severe. Early and continuing treatment of CF is essential for long-term survival. theintestine. This method is also done on an outpatient basis. An alternative to surgery is varicocele embolization. Without treatment. CF affects the exocrine glands and is characterized by the production of abnormal secretions. If surgery is required because of infertility or testicular wasting away (atrophy). Complications from treatment may include: y y y y Atrophic testis Blood clot formation Infection Injury to the scrotal tissue or nearby blood vessel Outlook (Prognosis) A varicocele is usually harmless and often requires no treatment. ne of the most common grave genetic (inherited) diseases. and medications to fight dangerous infections of the lungs. the risk that each of their subsequent children will have CF drops to 1 in 4 (25%). CF is caused by mutation in the gene encoding CFTR (cystic fibrosis conductance regulator) on chromosome 7. A tiny coil passes through the tube into the varicocele. secondarily. new problems are emerging. the sperm count will likely improve but the ultimate pregnancy rate is unchanged. This accumulation of mucus can impair the pancreas and. it uses a much smaller cut than surgery. Coughing. One in 400 white couples is at risk for having children with CF and their risk with each pregnancy is 1 in 4. Blood will now flow around the area into normal veins. and sends it to normal veins. The urologist will make a cut. If pain continues or other symptoms occur. Treatment A scrotal support (jock strap) or snug underwear may provide some relief of the pain or discomfort. Mucous build-up in lungs tends progressively to impair respiration. . further treatment may be needed. CF is inherited in an autosomal recessive manner and affects both boys and girls. laughing and airway clearance provoked the leakage. the health care provider moves the tube into the varicocele. CF results in death for 95% of affected children before age 5. A small hollow tube called a catheter (tube) is placed into a vein in your groin or neck area. The most common mutation. However. you will be told to place ice on the area and wear a scrotal support for a little while. Surgery to correct a varicocele is called a varicocelectomy. For example. In most cases. so you heal faster. testicular wasting (atrophy) does not improve unless surgery is done early in adolescence. results in the production of a misfolded CFTR protein that is retained in the endoplasmic reticulum and targeted for degradation.pancreatic enzymes. Using x-rays as a guide. The surgery is usually done on an outpatient basis. 68% of 75 adult women with CF reported leakage of urine within the past year. so (multiplying 1 in 400 times 1 in 4) the overall risk that their child will have CF is 1 in 1600. The coil blocks blood flow to the bad vein. However. The treatment of CF includes physical therapy to loosen the mucus in the lungs. DeltaF508. leading to mucous build-up. However. Note that once a couple has had a CF child. You will receive some type of numbing medication (anesthesia). Early diagnosis of CF is of great importance. with diligent medical care patients with CF are surviving even beyond middle age. After the procedures. Keep an ice pack on the area for the first 24 hours after surgery to reduce swelling. sneezing.The testicle on the side of the varicocele may be smaller than the one on the other side. usually in the lower abdomen. and tie off the abnormal vein.
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