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	Galactosemia - Wikipedia, the free encyclopedia
		Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose.
		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.
		Galactosemia is sometimes confused with lactose intolerance, but the galactosemia is a more serious condition.
	en.wikipedia.org /wiki/Galactosemia (393 words)

	Galactosemia
		The diagnosis of galactosemia is established in all individuals by measurement of erythrocyte GALT enzyme activity and by isoelectric focusing of GALT.
		The diagnosis of galactosemia is established by quantitative measurement of erythrocyte galactose-1-phosphate uridyltransferase (GALT) enzyme activity and its isoforms by isoelectric focusing of GALT.
		Elsas LJ (2001) Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)- deficient galactosemia.
	www.geneclinics.org /profiles/galactosemia/details.html (5123 words)

	Galactosemia \| aHealthyAdvantage (Site not responding. Last check: 2007-10-09)
		Galactosemia is an inherited disease in which the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body.
		Galactosemia I (also called classic galactosemia), the first form to be discovered, is caused by defects in both copies of the gene that codes for an enzyme called galactose-1-phosphate uridyl transferase (GALT).
		Galactosemia II is less harmful than galactosemia I. Babies born with galactosemia II will develop cataracts at an early age unless they are given a galactose-free diet.
	www.ahealthyadvantage.com /topic/galactosemia (1774 words)

	Galactosemia - KP Genetics Northern California
		Galactosemia is a condition that occurs when the body lacks an enzyme needed to break down (metabolize) milk sugar into galactose.
		Galactosemia is to a some who then missing the the shoot for the areas of the of caused by a malfunction in a pair of genes.
		Almost all people with galactosemia are started on a soy-based formula as infants, and then simply continue to drink it throughout their lives in order to make up for the vitamins and minerals lacking in the typical galactose-restricted diet.
	www.dor.kaiser.org /genetics/home/galactosemia.htm (1899 words)

	Galactosemia (Site not responding. Last check: 2007-10-09)
		Galactosemia is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose.
		The gene defect for Galactosemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation.
		Galactosemia is often confused with lactose intolerance, but please keep in mind that galactosemia is a disease.
	www.savebabies.org /diseasedescriptions/galactosemia.php (1076 words)

	Galactosemia
		Galactosemia is an inherited disorder characterized by an inability of the body to utilize galactose.
		Galactosemia is treated by removing foods that contain galactose from the diet.
		A milder form of galactosemia known as the "Duarte variant" is also caused by a mutation within the GALT gene.
	depts.washington.edu /transmet/gal.html (1686 words)

	Galactosemia - Genetics Home Reference
		Mutations in the GALE, GALK1, and GALT genes cause galactosemia.
		Most cases of galactosemia are categorized as classic, or type I, galactosemia and are caused by mutations in the GALT gene.
		Galactosemia type II results from mutations in the GALK1 gene, which cause a shortage of the enzyme galactokinase.
	ghr.nlm.nih.gov /condition=galactosemia (640 words)

	Health Information (Site not responding. Last check: 2007-10-09)
		Galactosemia is an inherited disease where the transformation of galactose to glucose is blocked, allowing galactose to increase to toxic levels in the body.
		Each of the forms of galactosemia is inherited as a recessive trait, which means that galactosemia is only present in individuals with two defective copies of one of the three genes.
		Galactosemia II Galactosemia II is caused by defects in both copies of the gene that codes for an enzyme called galactokinase (GALK).
	www.ehealthconnection.com /regions/lourdes/health_information/00048850.asp (1759 words)

	Newborn Screening Program - Galactosemia
		Galactosemia is an inherited defect of galactose metabolism caused by an enzyme deficiency that prevents proper metabolism and utilization of galactose, or milk sugar.
		Galactosemia is inherited in an autosomal recessive pattern.
		As an autosomal recessive disorder, the parents of a child with galactosemia are unaffected, healthy carriers of the condition and have one normal gene and one abnormal gene.
	www.idph.state.il.us /HealthWellness/fs/galactosemia.htm (1006 words)

	Galactosemia (Site not responding. Last check: 2007-10-09)
		Galactosemia is a metabolic disorder caused by a defect in the galactose-1-phosphate uridyltransferase (GALT) enzyme.
		In summary, galactosemia is a heterogeneous disorder at the molecular level, and mutation N314D, appears to be an ancient genetic variant of the GALT gene.
		Classical galactosemia is a genetic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene.
	www.thedoctorsdoctor.com /diseases/galactosemia.htm (2666 words)

	Newborn Screening Case Management (Site not responding. Last check: 2007-10-09)
		Galactosemia (ga-lac-to-se-me-a) is a rare hereditary condition caused by the body's inability to breakdown galactose (a sugar found in milk and milk products).
		Galactosemia is inherited when both parents pass a galactosemia gene to their child.
		Galactosemia is different for each child and will not cause the same problems with all children.
	www.dshs.state.tx.us /newborn/galacbro.shtm (730 words)

	MedlinePlus Medical Encyclopedia: Galactosemia
		Galactosemia is an inherited disorder (transmitted as an autosomal recessive trait).
		If there is a family history of galactosemia, genetic counseling will help prospective parents make decisions about pregnancy and prenatal testing.
		Once the diagnosis of galactosemia is made, genetic counseling is recommended for other members of the family.
	www.nlm.nih.gov /medlineplus/ency/article/000366.htm (821 words)

	Galactosemia Test - SJMMC, Ann Arbor, Michigan MI
		A galactosemia test is a blood or urine test that checks for three enzymes that are needed to change galactose, a sugar that is found in milk and milk products, into glucose, a sugar that your body uses for energy.
		Galactosemia is a rare disease that is passed from parents to children (inherited genetic disorder).
		A galactosemia test is a blood or urine test that checks for the enzymes that are needed to change galactose into glucose.
	www.sjmercyhealth.org /13803.cfm (1203 words)

	Galactosemia
		Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose (a sugar contained in milk, including human mother’s milk) to glucose (a different type of sugar).
		Children with Galactosemia, who have not received early treatment, may show arrested physical and mental development and are particularly susceptible to cataracts in infancy or childhood.
		Ovarian impairment is not uncommon in girls with Galactosemia because of an increase in the blood level of the hormone gonadotropin; males with Galactosemia have also been identified who have an excessive level of gonadotropin (hypergonadotropinism).
	hw.healthdialog.com /kbase/nord/nord373.htm (1336 words)

	What is Galactosemia? (Site not responding. Last check: 2007-10-09)
		Galactosemia means too much galactose in the blood caused by the individual "missing" the enzyme (known as GALT) to convert galactose into glucose.
		Diagnosis of Duarte galactosemia is made usually within the first weeks of life by the same blood test used to diagnose classic galactosemia.
		A person who is a carrier of classic galactosemia inherits one normal gene from one parent and one gene containing the error that leads to classic galactosemia from the other parent.
	www.galactosemia.org /galactosemia.htm (852 words)

	Galactosemia - Liver Health Information - The American Liver Foundation (Site not responding. Last check: 2007-10-09)
		Galactosemia is a rare hereditary disease leading not only to cirrhosis in infants, but more seriously, to early devastating illness if not diagnosed quickly.
		This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown).
		Galactosemia should be considered in any jaundiced infant because of beneficial effects of early dietary restriction.
	www.liverfoundation.org /cgi-bin/dbs/articles.cgi?db=articles&uid=default&ID=1046&view_records=1 (471 words)

	Galactosemia - DrGreene.com (Site not responding. Last check: 2007-10-09)
		Classic galactosemia is a condition where children lack the enzyme necessary to process galactose.
		Galactosemia is treated by removing lactose from the diet.
		Galactosemia is not preventable, but further damage is often preventable by removing galactose from the diet.
	www.drgreene.com /21_1097.html (433 words)

	Newborn Screening Case Management - Galactosemia (Site not responding. Last check: 2007-10-09)
		The Galactosemia Brochure (49.4KB) is available in both English and Spanish in pdf format.
		Galactosemia Food Card - The treatment for galactosemia is to restrict galactose and lactose from the diet for life.
		Galactosemia Handbook: A Guide for Families - This handbook is meant to give you the basic information that will help you understand how to care for your child with galactosemia.
	www.dshs.state.tx.us /newborn/galac_1.shtm (310 words)

	More references to Journals (Site not responding. Last check: 2007-10-09)
		Tedesco and Mellman (1971) demonstrated that in galactosemia gal-1-P uridyltransferase is immunologically intact although enzymatically defective; thus, a structural gene mutation is involved.
		Pregnancy is rare in women with galactosemia because of the high frequency of hypergonadotropic hypogonadism with ovarian atrophy.
		(1992) characterized 2 galactosemia mutations, L74P and F171S (230400.0008), and 1 polymorphism, S135L, in the GALT gene.
	www.galactosemia.com /discussion/archives/_galdisc/00000459.htm (5386 words)

	GALACTOSEMIA Case Reports Pediatric Oncall (Site not responding. Last check: 2007-10-09)
		Thus she was diagnosed as Galactosemia and started on galactose free diet (soya milk) with supplementation of Vitamin E, K, A, C and Ureodeoxycholic acid.
		Her blood for transferase and epimerase enzyme studies has been sent and reports are awaited.
		There are several enzymatic variants of galactosemia of which the Duarte Variant has diminished red cell enzyme activity but no clinical significance and some African-American patients have milder symptoms despite the absence of measurable transferase activity in RBCs as these patients retain about 10% enzyme activity in liver and intestinal mucosa.
	www.pediatriconcall.com /fordoctor/casereports/galactosemia.asp (880 words)

	Articles from LEAVEN: To Breastfeed or Not: PKU, Galactosemia, Other Rare Disorders and Possible Misdiagnosis
		Galactosemia is also a metabolic enzyme deficiency/absence condition which is transmitted through a recessive genetic trait.
		Riordan and Auerbach state the incidence of galactosemia as one in every 85,000 births or about 47 infants per year in the US.
		The symptoms of galactosemia are vague, especially since the newborn appears normal.
	www.lalecheleague.org /llleaderweb/LV/LVAugSep98p78.html (1407 words)

	eMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) : Article by George A Anadiotis, DO (Site not responding. Last check: 2007-10-09)
		Vitreous hemorrhage is a known complication of galactosemia, although its prevalence is unknown.
		Galactosemia should be high on the differential diagnosis of term infants with sepsis caused by infection with this pathogen.
		Failure to test for or consider galactosemia in the clinical setting due to the mistaken assumption that all children are screened for galactosemia or that the screening test is 100% accurate and foolproof
	www.emedicine.com /ped/topic818.htm (1682 words)

	Galactosemia Test - [Medical Test] - Quest Diagnostics Patient Health Library (Site not responding. Last check: 2007-10-09)
		Early detection and treatment of galactosemia is very important because the disease can cause brain damage, liver failure, and cataracts if it is not treated.
		A galactosemia test 2 to 3 days after birth will indicate whether your baby has galactosemia.
		If you or your partner knows that you are a carrier of galactosemia, you may want to have genetic counseling to learn about the disease and the likelihood of passing it to your children.
	www.questdiagnostics.com /kbase/topic/medtest/hw7694/consider.htm (228 words)

	Galactosemia - Detroit, Michigan
		There are 3 forms of the disease -- galactose-1 phosphate uridyl transferase deficiency (classic galactosemia) and deficiency of galactose kinase or galactose-6-phosphate epimerase.
		People with galactosemia are unable to fully metabolize the simple sugar galactose.
		After drinking milk for a few days, a newborn infant with galactosemia, will develop intolerance of feeding, jaundice, vomiting, lethargy, irritability, and convulsions.
	www.henryfordhealth.org /134906.cfm (751 words)

	Galactosemics.org
		This section is for parents to talk about their newly diagnosed children, and to get answers to their questions.
		This section is for discussions about galactosemia conferences, and for posting notes from recent conferences.
		This section is for parents of galactosemics and galactosemics to talk about anything in general, even topics not related to galactosemia.
	www.galactosemics.org /forums (253 words)

	eMedicine - Galactose-1-Phosphate Uridyltransferase Deficiency (Galactosemia) : Article Excerpt by: George A Anadiotis, ... (Site not responding. Last check: 2007-10-09)
		Background: Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during the newborn period.
		Many metabolic disease specialists take a conservative approach and recommend galactose restriction in the first year of life when milk intake is highest, but this restriction is based primarily on theoretical concerns of galactose toxicity in infants with the Duarte variant.
		Age: Galactosemia most often is diagnosed in infancy by newborn screening, although not all states include galactosemia as part of their newborn screen.
	www.emedicine.com /ped/byname/galactose-1-phosphate-uridyltransferase-deficiency-(galactosemia).htm (482 words)

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