galactosemia…

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galactosemia, galactose-1-phosphate uridyl transferase deficiency, galactokinase deficiency, galactose-6-phosphate epimerase deficiency, galactosemia, inability, use, metabolize, simple sugar galactose, causing the accumulation of galactose 1-phosphate, reaches high levels, causing damage, liver, central nervous system, various other body systems, galactosemia, inherited disorder, transmitted, an autosomal recessive trait, occurs at a rate of approximately 1 out of 60,000 births, 3 forms, galactose-1 phosphate uridyl transferase deficiency, classic galactosemia, most common, most severe form, deficiency of galactose kinase, deficiency of galactose-6-phosphate epimerase, galactosemia, unable to fully break down the simple sugar galactose, galactose makes up half of lactose, sugar found in milk, lactose, a disaccharide, di meaning 2, saccharide meaning sugar, made up of two sugars, galactose, glucose, bound together, an infant, galactosemia is given milk, derivatives of galactose build up, in the infant's system, causing damage, liver, brain, kidneys, eyes, individuals, galactosemia cannot tolerate any form of milk, human, animal, must watch intake of other galactose-containing foods, exposure to milk products, liver damage, mental retardation, cataract formation, kidney failure, after drinking milk, a newborn, galactosemia, develop intolerance of feeding, jaundice, vomiting, lethargy, irritability, convulsions, liver, enlarged, blood sugar low, continued feeding of milk products, infant leads to cirrhosis, the liver, cataract formation, in the eye, partial blindness, mental retardation, jaundice, yellowish discoloration, the skin, the eyes, vomiting, poor feeding, baby refusing to drink milk-containing formula, poor weight gain, lethargy, irritability, convulsions, hepatomegaly, enlarged liver, hypoglycemia, low blood sugar, aminoaciduria, amino acids, in the urine, cirrhosis, ascites, fluid collects, in the abdomen, mental retardation, cataract formation, prenatal diagnosis by direct measurement, the enzyme galactose-1-phosphate uridyl transferase, presence of "reducing substances", in the infant's urine, low blood sugar the infant is fed breast milk, a formula containing lactose, a simple test on the urine indicates, a reducing substance, a specific enzymatic study on the urine, prove the substance to be galactose, presence of chemicals, ketones, urine, measurement of enzyme activity, in the red blood cells, blood culture, bacteria infection, e. coli sepsis, once the disease is recognized, treatment consists of strictly avoiding all milk, milk-containing products, infant, fed, soy formula, meat-base formula, nutramigen, a protein hydrolysate formula, lactose-free formula, condition is lifelong, abstinence from milk, milk products, parents need to take care, educate the child to avoid not only milk, milk products, foods that contain dry milk products, essential to read product labels, an informed consumer, parents of galactosemic children, galactosemia, 775-626-5811, diagnosis is made early, milk products, strictly avoided, prognosis, relatively normal life, despite strict avoidance of galactose, mild intellectual impairment, still develop, cataracts, cirrhosis, severe infection, bacteria, e. coli sepsis, delayed speech development, severe mental retardation, irregular menstrual cycles, decreased function, ovaries, ovarian failure, death, diet is not adhered to, infant shows a combination, of galactosemia symptoms, family history of galactosemia, considering having children, a personal knowledge of family history is helpful, family history of galactosemia, genetic counseling, help prospective parents make decisions, pregnancy, prenatal testing, once the diagnosis of galactosemia is made, genetic counseling, members, the family, many states have mandatory screening of newborns, galactosemia, parents, receive a call, a health care provider that says the screening test indicates possible galactosemia, parents should promptly stop milk products, blood test done, galactosemia, doctor.