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What is primary aminoaciduria?
Aminoaciduria-- The abnormal presence of amino acids in the urine.Primary or overflow aminoaciduria results from deficiencies in the enzymes necessary to metabolize amino acids.
What causes aminoaciduria?
Congenital (present at birth) enzyme deficiencies that affect amino acid metabolism or congenital abnormalities in the amino acid transport system of the kidneys creates a condition called aminoaciduria.
What is secondary aminoaciduria?
Aminoaciduria-- The abnormal presence of amino acids in the urine.Secondary or renal aminoaciduria occurs because of a congenital defect in the amino acid transport system in the tubules of the kidneys.
What are the types of aminoaciduria?
There are several types of aminoaciduria, including cystinuria, Hartnup disease, and Lowe syndrome. Cystinuria involves the excessive excretion of cystine in the urine, while Hartnup disease is characterized by the impaired absorption of amino acids. Lowe syndrome is a rare genetic disorder that affects various systems in the body, including the kidneys.
How is diagnosis of Hartnup disease confirmed?
a laboratory test of the urine which will contain an abnormally high amount of amino acids (aminoaciduria).
What is an abnormal result in amino acid screening tests?
The blood plasma amino acid pattern is abnormal in overflow aminoaciduria and is normal in renal aminoaciduria. The pattern is abnormal in the urine test, suggesting additional tests need to be done to determine which amino acids are involved.
What does the word ami mean?
amia amiabilities amiability amiable amiableness amiablenesses amiably amiantus amiantuses amias amicabilities amicability amicable amicableness amicablenesses amicably amice amices amici amicus amid amidase amidases amide amides amidic amidin amidine amidines amidins amido amidogen amidogens amidol amidols amidone amidones amids amidship amidships amidst amie amies amiga amigas amigo amigos amin amine amines aminic aminities aminity amino aminoaciduria aminoacidurias aminopeptidase aminopeptidases aminophylline aminophyllines aminopterin aminopterins aminopyrine aminopyrines aminotransferase aminotransferases amins amir amirate amirates amirs amis amiss amities amitoses amitosis amitotic amitotically amitriptyline amitriptylines amitrole amitroles amity
What are some words that begin with ami?
3-letter wordsami4-letter wordsamia, amid, amie, amin, amir, amis5-letter wordsamias, amice, amide, amido, amids, amies, amiga, amigo, amine, amino, amins, amirs, amiss, amity6-letter wordsamices, amides, amidic, amidin, amidol, amidst, amigas, amigos, amines, aminic7-letter wordsamiable, amiably, amidase, amidine, amidins, amidols, amidone, aminity, amirate, amities8-letter wordsamiantus, amicable, amicably, amidases, amidines, amidogen, amidones, amidship, amirates, amitoses, amitosis, amitotic, amitrole9-letter wordsamidogens, amidships, aminities, amitroles10-letter wordsamiability, amiantuses11-letter wordsamiableness, amicability, aminopterin, aminopyrine12-letter wordsamiabilities, amicableness, aminopterins, aminopyrines, amitotically13-letter wordsamiablenesses, amicabilities, aminoaciduria, aminophylline, amitriptyline14-letter wordsamicablenesses, aminoacidurias, aminopeptidase, aminophyllines, amitriptylines15-letter wordsaminopeptidases16-letter wordsaminotransferase17-letter wordsaminotransferases82 words found.
What rhymes with hematuria?
End rhymes for "hematuria": 1. acetonuria 2. acholuria 3. achromaturia 4. aciduria 5. adiposuria 6. albiduria 7. albinuria 8. albuminuria 9. alcaptonuria 10. alkalinuria 11. alkaluria 12. alkaptonuria 13. allantoinuria 14. alloxuria 15. ameburia 16. aminoaciduria 17. aminuria 18. ammoniuria 19. amylasuria 20. amylosuria 21. amyluria 22. anuria 23. archosauria 24. aspartylglycosaminuria 25. azoturia 26. bacilluria 27. bacteriuria 28. baruria 29. beeturia 30. bilirubinuria 31. biliuria 32. blennuria 33. bradyuria 34. calcariuria 35. calciuria 36. carbohydraturia 37. carboluria 38. centuria 39. chloriduria 40. chloruria 41. cholesteroluria 42. choleuria 43. choluria 44. chromaturia 45. chyluria 46. citrullinuria 47. creatinuria 48. crystalluria 49. curia 50. cylindruria 51. cystathioninuria 52. cystinuria 53. cyturia 54. dextrinuria 55. diastasuria 56. dinosauria 57. dysuria 58. enaliosauria 59. eosinophiluria 60. erythruria 61. etruria 62. fibrinuria 63. fructosuria 64. galactosuria 65. globulinuria 66. glucosuria 67. glutathionuria 68. glycosuria 69. haematocyturia 70. haematuria 71. haemoglobinuria 72. halisauria 73. hematocyturia 74. hematuria 75. hemoglobinuria 76. histidinuria 77. histonuria 78. holothuria 79. homaluria 80. homocitrullinuria 81. homocystinuria 82. hyalinuria 83. hydrothionuria 84. hypercalcinuria 85. hypercalciuria 86. hyperglycinuria 87. hyperglycosuria 88. hyperketonuria 89. hyperlysinuria 90. hyperoxaluria 91. hyperphosphaturia 92. hypersthenuria 93. hyperuricuria 94. hypoaldosteronuria 95. hypoazoturia 96. hypochloruria 97. hypocitraturia 98. hypophosphaturia 99. hyposthenuria 100. hypouricuria from: rhymezone.com
What Words begin and end with same letter?
areaalleluiaalgebraantennaarenabombblobcivicchronicchaoticcharismaticcharacteristicclassicclaustrophobicdreaddividenddemanddependeraseestateevidencefluffgonggoinggaggighearthhatchhealthharshhashkicklevelloyallogicallegallapellabellocallateralliterallethalmomentummemorandummaximumminimummomnounnoonnylonnogginpeppoppuppumppropploproarriverringerrazorrulerserioussuspicioussanctimonioussuccesssurplustraittrotteapottrumpettickettalenttransparentturbulenttoottruesttacttenttaunttinttainttorrentthoughttyrantwindowwidowwillowwowyearlyyeasty
What types of eating disorder's is theire. including galactocemia. Galactocemia is an eating disorder?
classic galactosemia. galactose-1-phosphate uridyltransferase deficiency; galactosemia type 1; GALT deficiency; galactose-1-phosphate uridyltranferase deficiency; galactose-1-phosphate uridyl transferase deficiency; galactose-1-phosphate uridyl-transferase deficiency disease; galactosemia, classic.A life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. Epidemiology Global prevalence is unknown but estimated annual incidence has been reported to be between 1/40,000 and 1/60,000 in Western countries. The disorder appears to be more common in the Caucasian population than in other ethnic groups but figures in other populations may be underestimated. Males and females are equally affected. Clinical description When ingesting breast milk or lactose-containing formula, infants develop feeding problems, failure to thrive, and signs of liver damage (jaundice, bleeding tendency, hypoglycemia). In the absence of appropriate treatment (galactose restriction), sepsis (E-coli) and neonatal death may occur. Despite adequate treatment, long-term complications appear including cognitive impairments, motor deficits, ovarian dysfunction with reduced fertility in women and diminished bone density. Male fertility has not yet been thoroughly studied. Etiology Classic galactosemia is caused by mutations in the GALT (9p13) gene encoding the galactose-1-phosphate uridyltransferase enzyme. Mutations that severely impair enzyme activity result in the classic galactosemia phenotype. The so-called variants are mutations associated with higher residual enzyme activity resulting in milder or no features of galactosemia such as the Duarte variant (GALT gene mutation). Diagnostic methods In many countries, infants are routinely screened for galactosemia at birth. When neonatal screening is not performed, diagnosis is based on the clinical picture. Diagnosis can be confirmed by assay of the relevant metabolites, enzyme activity and GALT gene mutational analysis.Differential diagnosis Differential diagnoses include galactose epimerase deficiency and other diseases causing acute liver disease in the neonate. Antenatal diagnosisPrenatal testing is usually performed via gene mutation analysis by chorionic villus sampling. In at-risk relatives, testing is also possible to search for the mutation when already identified in a family. Genetic counseling. Galactosemia follows an autosomal recessive pattern of inheritance. Parents of an affected child have a 25% chance of having affected children in subsequent pregnancies. Management and treatmentTreatment is based primarily on galactose restriction in the diet. Infants should be fed with soy formula or other lactose-free formula. Patients are advised to follow a lifelong diet. To prevent a diminished bone mass, calcium, vitamin D and vitamin K supplements are recommended if dietary intake does not meet the recommended daily allowance. Monitoring of cognitive and motor development, gonadal function and bone mass is mandatory. Eye examinations are recommended in case of neonatal cataracts or in case of poor dietary compliance. Despite dietary treatment long-term complications occur. Prognosis. Prognosis is dependent on age of diagnosis, disease severity and compliance with dietary restrictions, which affects the onset and course of secondary complications.
Aminoaciduria?
DefinitionAminoaciduria is an abnormal amount of amino acids in the urine. Amino acids are the building blocks for proteins in the body.This article discusses the test used to look for increased amounts of amino acids in the urine.See also:Amino acids blood testInborn errors of metabolismAlternative NamesAmino acids - urine; Urine amino acidsHow the test is performedA clean-catch urine sample is needed. This is often done at your doctor's office or health clinic.How to prepare for the testNo special preparations are necessary. Make sure your doctor knows about all the medicines you or your child are taking or have recently used. If this test is being done on an infant who is breast-feeding, make sure the health care provider knows what medicines the nursing mother is taking.How the test will feelThe test involves only normal urination.Why the test is performedThis test is done to measure amino acid levels in the urine. There are many different types of amino acids. It is common for some of each kind to be found in the urine, but increased levels of individual amino acids can be a sign of an inborn error of metabolism.Normal ValuesThe specific value is measured in micromoles per deciliter (micromol/dL).Alanine Children: 65 to 190Adults: 160 to 690Alpha-aminoadipic acid Children: 25 to 78Adults: 0 to 165Alpha-amino-N-butyric acid Children: 7 to 25Adults: 0 to 28Arginine Children: 10 to 25Adults: 13 to 64Asparagine Children: 15 to 40Adults: 34 to 100Aspartic acidChildren: 10 to 26Adults: 14 to 89Beta-alanine Children: 0 to 42Adults: 0 to 93Beta-amino-isobutyric acid Children: 25 to 96Adults: 10 to 235Carnosine Children: 34 to 220Adults: 16 to 125Citrulline Children: 0 to 13Adults: 0 to 11Cystine Children: 11 to 53Adults: 28 to 115Glutamic acid Children: 13 to 22Adults: 27 to 105Glutamine Children: 150 to 400Adults: 300 to 1,040Glycine Children: 195 to 855Adults: 750 to 2,400Histidine Children: 46 to 725Adults: 500 to 1,500Hydroxyproline Children: not measuredAdults: not measuredIsoleucine Children: 3 to 15Adults: 4 to 23Leucine Children: 9 to 23Adults: 20 to 77Lysine Children: 19 to 140Adults: 32 to 290Methionine Children: 7 to 20Adults: 5 to 301-methylhistidine Children: 41 to 300Adults: 68 to 8553-methylhistidine Children: 42 to 135Adults: 64 to 320Ornithine Children: 3 to 16Adults: 5 to 70PhenylalanineChildren: 20 to 61Adults: 36 to 90Phosphoserine Children: 16 to 34Adults: 28 to 95Phosphoethanolamine Children: 24 to 66Adults: 17 to 95Proline Children: not measuredAdults: not measuredSerine Children: 93 to 210Adults: 200 to 695Taurine Children: 62 to 970Adults: 267 to 1,290Threonine Children: 25 to 100Adults: 80 to 320Tyrosine Children: 30 to 83Adults: 38 to 145Valine Children: 17 to 37Adults: 19 to 74What abnormal results meanIncreased total urine amino acids may be due to:AlkaptonuriaCanavan diseaseCystinosisCystathioninuriaFructose intoleranceGalactosemiaHartnup diseaseHomocystinuriaHyperammonemiaHyperparathyroidismMaple syrup urine diseaseMethylmalonic acidemiaMultiple myelomaOrnithine transcarbamylase deficiencyOsteomalaciaPropionic acidemiaRicketsTyrosinemia type 1Tyrosinemia type 2Viral hepatitisWilson's diseaseSpecial considerationsFailure to have the urine sample promptly evaluated in the laboratory alters the results of the test.This test is ineffective if the baby is under 6 weeks old and has not been fed dietary protein in the last 48 hours.Urine chromatography is necessary to accurately measure increased levels of specific amino acids.Screening infants for increased levels of amino acids can lead to early diagnosis of an inborn error of metabolism. If the condition is promptly treated, complications such as severe mental retardationmay be prevented.
