81. Newborn Screening Program On Galactosemia galactosemia. What is it? galactosemia (GuhLAK-toe-SEE-me-ah) is a disease in which galactose cannot be broken down in the body. http://www.hhs.state.ne.us/nsp/Newborn2.htm

Galactosemia What is it? Galactosemia (Guh-LAK-toe-SEE-me-ah) is a disease in which galactose cannot be broken down in the body. Galactose is a simple sugar found in breast milk, many formulas, and milk products. Children with Galactosemia cannot break down the galactose, so it remains at high levels in their body. The effects of these high levels can harm a child's eyes, liver, and brain. About 1 in 4 infants with untreated Galactosemia develop serious infections in the first or second week of life. This damage can be prevented by placing the child on a special diet within the first few days of life. My child had an abnormal test. What do I do now? An abnormal test does not necessarily mean that your child has Galactosemia. But the only way to make sure is to have a "confirmatory test." This test is more specific than the first test and can give your doctor more information. The first thing to do is to get your child retested as soon as possible. If your child does have Galactosemia, damage and death can be prevented if it is found and treatment started within the first few days of life. Until the confirmatory test results have been received, the child should be taken off breast milk or regular formulas and be placed on a non-lactose formula, such as soy. How is Galactosemia treated?

82. Division Of Chemistry And Toxicology - Galactosemia Unit Division of Chemistry and Toxicology. galactosemia Unit. Most cases of galactosemia are due to partial deficiency or complete absence of the enzyme, Gal1-PUT. http://www.mdch.state.mi.us/pha/bofl/DivChemTox/GalUt.htm

Division of Chemistry and Toxicology Galactosemia Unit Total Galactose Galactose is a sugar formed from dietary lactose. It is converted to galactose-1-phosphate and other metabolites by several enzymes, especially phosphogalactose uridyl transferase. A decrease or lack of the enzyme will cause elevated galactose and galactose-1-phosphate levels in the bloodstream. Principles of the Test The procedure manufactured by PerkinElmerWallac, Inc. is a fluormetric assay that simultaneously measures galactose and galactose-1-phosphate. A fluorescent microplate reader and Galactose Test Kit make use of a fluorescent, galactose oxidase method in a microplate format. Enzyme Test: Galactose-1-Phosphate Uridyl Transferase Galactose-1-phosphate uridyl transferase (Gal-1-PUT) is one of the enzymes necessary to convert galactose-1-phosphate into glucose-1-phosphate. A decrease or lack of the enzyme will cause an elevated galactose level in the bloodstream. Classical galactosemia is a hereditary autosomal recessive disorder characterized by seizures, mental retardation, cataracts, and can be fatal. Most cases of galactosemia are due to partial deficiency or complete absence of the enzyme, Gal-1-PUT. Screening for the Gal-1-PUT enzyme in newborns is important for the early diagnosis and treatment of this disorder. If Gal-1-PUT deficiency is detected, infants should be placed on lactose free diets. Principles of the Test The procedure manufactured by PerkinElmerWallac, Inc.

83. A Closer Look At Galactosemia galactosemia is a rare genetic disorder that can cause severe damage, even death, to children who consume milk or dairy products. A closer look at galactosemia. http://www.tdprs.state.tx.us/Adoption_and_Foster_Care/About_Our_Children/galacto

A closer look at Galactosemia previous page Galactosemia is a rare genetic disorder that can cause severe damage, even death, to children who consume milk or dairy products. Galactosemia should not be confused with lactose intolerance, which is an allergic reaction some children get from dairy products. Galactosemia is a condition that can cause complications such as an enlarged liver, kidney failure, cataracts, and brain damage. Diagnosis is usually made shortly after birth as a standard part of newborn screening. However, even though a restricted diet is started right away, there continues to be a high incidence of complications involving speech and language, fine and gross motor skill delays, and specific learning disabilities. Galactosemia means too much galactose in the blood due to absence of an enzyme that converts galactose into glucose. If the galactose is converted to glucose, it is used by the body for energy. However, when the galactose isn't converted into glucose, it accumulates in the body as a poison. Galactosemia occurs in children when both the mother and the father carry the defective gene. Incidence of the disease is about one in 20,000 births. Children with galactosemia must be prevented from consuming any milk, cheese, or milk products, including lactose additives in other foods. Parents must be careful readers of the ingredients on food, including processed foods in cans or dry packages.

84. Gi.ucsf.edu/ALF/info/infogalactosemia.html Short description of cell lines. Pathology galactosemia *230400Version 4.200205, Short description of cell lines. Pathology galactosemia *230400 OMIM record. By selecting the cell line name, you http://gi.ucsf.edu/ALF/info/infogalactosemia.html

85. Medical Encyclopedia BACK, Back to main Health Information page Disease galactosemia. galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). http://www.medstarhealth.org/body.cfm?id=124&action=display&articlenum=366

86. -- Altered Metabolism Of Galactose Due To Deficient Enzyme Activity Or Impaired galactosemia. Definition concentration. galactosemia results from the deficiency of one of three different enzymes, each with a distinct phenotype. http://pedclerk.bsd.uchicago.edu/galactosemia.html

GALACTOSEMIA Definition: Milk and dairy products contain lactose (glucose + galactose), the major dietary source of galactose. The metabolism of galactose produces fuel for cellular metabolism through its conversion to glucose-1-phosphate. Galactose also plays an important role in the formation of glycoproteins, glycolipids, and glycosaminoglycans. Galatactosemia is the altered metabolism of galactose due to deficient enzyme activity or impaired liver function resulting in elevated blood galactose concentration. Galactosemia results from the deficiency of one of three different enzymes, each with a distinct phenotype. Disorder Enzyme Deficiency Symptoms Description Classic Galactosemia Galactose-1-phospate uridyl transferase (GALT) Liver and renal dysfunction, cataracts, abnormal neurodevelopment, premature ovarian failure Most common and most severe form. Galactokinase Deficiency Galactokinase Bilateral cataracts, will resolve with dietary therapy Benign Generalized UDPgalactose-4-epimerase Deficiency Uridine diphosphate galactose 4-epimerase Similar to classic galactosemia with additional findings of hypotonia and nerve deafness Benign variant is common, when the defect is localized to red blood cells- no treatment required

87. Welcome To PalmBeachPost! galactosemia. systems. Causes and Risks. galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). It occurs http://www.palmbeachpost.com/health/healthfd/shared/health/adam/ency/article/000

Jobs Autos Real Estate Classifieds ... Today's Post '); document.write(' HEALTH INDEX 5,000+ Area Doctors phone numbers Encyclopedia With symptoms and prevention tips Local Services Find Health services in your neighborhood Ask An Expert Get professional answers to medical questions Video Galleries Doctors explain medical terms and conditions Health Guides For women, children, Latest News Dozens of daily national PB Post Articles The most recent local health stories Today's Post Latest News Weekly Features Post Services GoPBI.com Search The Post: Illustrated Health Encyclopedia Important notice Ency. home Disease G Galactosemia Overview Symptoms Treatment Prevention Alternative names: Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency Definition: Galactosemia is the inability of the body to use ( metabolize ) the simple sugar galactose (causing the accumulation of galactose 1-phosphate), which then reaches high levels in the body, causing damage to the liver, central nervous system, and various other body systems. Causes and Risks Galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). It occurs at a rate of approximately 1 out of 60,000 births. 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. Of these, the galactose-1-phosphate transferase deficiency is the most severe (and more common).

88. Hereditary Fructose Intolerance Page, Metabolism Index. http://www.fpnotebook.com/END89.htm

Home About Links Index ... Editor's Choice document.write(code); Advertisement Endocrinology Metabolism Assorted Pages Inborn Errors of Metabolism Disorders of Energy Metabolism Lysosomal storage disease Inborn Error of Small Molecule Metabolism ... Tay-Sachs Disease Hereditary Fructose Intolerance Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Endocrinology Index Adrenal Disease General Dermatology Diabetes Mellitus Examination Ophthalmology Geriatric Medicine Growth Hematology and Oncology Hypoglycemia Laboratory Metabolism Neonatology Obesity Obstetrics Parathyroid Disease Pediatrics Pharmacology Pituitary Disease Prevention Radiology Nephrology Sex Sports Medicine Surgery Symptom Evaluation Thyroid Disease Page Metabolism Index Background Class Energy Class Lysosomal Storage Class Small Molecules Fructose Intolerance Galactosemia Gauchers Disease Homocystinuria Tay-Sachs See Also Inborn Errors of Metabolism Inborn Error of Small Molecule Metabolism Pathophysiology Intolerance to fructose or sucrose Symptoms (follows sucrose or fructose exposure) Vomiting Hypoglycemia Seizure s Coma Hepatomegaly (see Hepatomegaly in Newborns Jaundice (Direct Hyperbilirubinemia Labs Hepatic fructose-1-phosphatase aldolase activity

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