hereditary urea cycle abnormality…

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male urinary system, urea cycle, abnormality, the urea cycle, hereditary, urea cycle, hereditary abnormality, urea cycle, metabolic process, waste, nitrogen, breakdown of dietary proteins is incorporated by the liver into a form, urea, excreted, in the urine, several hereditary conditions, cause problems, waste-removal process, genetic diseases, lack of a gene that makes critical enzymes needed, the urea cycle, ornithine transcarbamylase deficiency, otc, citrullinemia, arginase deficiency, argininosuccinic aciduria, carbamyl phosphate synthetase, cps, deficiency, n-acetyl glutamate synthetase deficiency, nags, a group, disorders occur in 1 in 30,000 newborns, genetic diseases associated, lack of a protein/enzyme activity, in the urea cycle, ornithine transcarbamylase deficiency, most common, ornithine transcarbamylase deficiency, x-linked recessive disorder, that all boys who inherit one bad copy, the gene, have the disease, girls, rarely affected, have milder symptoms, later onset, types, inherited in an autosomal recessive manner, meaning that need to get bad copies, the gene from both parents to develop the condition, disorders, appear in families, no prior knowledge that the parents were carriers, a result of these disorders, ammonia levels rise, proteins, not properly broken down into urea, removed, ammonia rises too high, in the body it, cause symptoms, confusion, untreated, progress to swelling, the brain, coma, death, disorders, frequently diagnosed in infancy, baby begins nursing well, seems normal, time there is progressively poorer feeding, vomitting, sleepiness which so deep that the baby is difficult to arouse, disliking protein-containing foods, decreased food intake, nausea, vomitting, change in clarity of mind, confusion, increased sleepiness, difficulty arousing person, coma, elevated blood ammonia level, abnormal pattern of blood, urine amino acids, abnormal level of orotic acid in blood, urine, normal level of acid in blood, low level of enzyme activity in liver biopsy, abnormal genetic test result, mutations, present in one, the genes, the proteins, the urea cycle, mri, ct scan, swelling of brain, mainstay of treatment of these disorders is protein restriction, protein, source of nitrogen-containing chemicals, in the diet, limiting protein, limit the amount, nitrogen-wastes, reduces the stress on the hampered urea cycle, imperative that protein restriction be done, guidance, a health care professional who, make certain to balance the amount, protein needed, growth, cause symptoms, extremely important, disorders to avoid fasting, patients, urea cycle abnormalities must also be very careful under times of stress, infections, stress, fever, cause the body to break down its own proteins, exceed the capacity, the abnormal urea cycle to dispose, the by-products, a sick-day plan, formulated, doctor to avoid all protein, consume high carbohydrate drinks, stay hydrated, most patients, urea cycle disorders, require hospitalization at some point in illness, such times, medicines that help the body dispose of nitrogen-containing wastes, dialysis required to help rid the body of excess ammonia, extreme illness, national urea cycle disorders foundation, 4841 hill street, la canada, ca 91011, phone, 818-790-2460, toll-free, 1-800-38-nucdf, nucdf, outcome depends on, the urea cycle abnormalities a person has, how severe it, how early it is discovered, how closely the protein-restricted diet is followed, babies diagnosed, in the first week of life, placed on a protein-restricted diet, continued adherence, diet, lead to normal adult intelligence, repeated episodes of not following the diet, stress-induced symptoms, lead to repeated brain swelling, irreversible brain damage, expected that major stresses, surgery, accidents, complicated, patients, extreme care is required to avoid problems, such periods, confusion progressing to disorientation, coma, death, repeated increases in blood ammonia level, child has a test that shows increased ammonia, in the blood, request an evaluation by a biochemical geneticist, metabolic specialist, family history of urea cycle disorder, seek genetic counseling, family planning, a dietician is instrumental in planning, updating a protein-restricted diet, a child grows, most inherited diseases, no way to absolutely, prevent these disorders, prenatal testing is available, preimplantation genetic testing available, using in vitro fertilization, preventing the episodes of severe illness, requiring hospitalization at times of stress, managed by teamwork between parents, child, doctors.