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1,052 Possible Causes for Aminoaciduria

  • Cadmium Poisoning

    Clinical findings Renal tubule disfunction (aminoaciduria), glucosuria, hyperphosphatemia, hepatic fibrosis, emphysema and COPD, osteomalacia accompanied by bone pain.[medical-dictionary.thefreedictionary.com] The effects of cadmium proximal renal function are characterized by increased cadmium in the urine, proteinuria (primarily Beta-2-microglobulin), aminoaciduria, glycosuria[pathopedia-india.com] Sufficient cadmium exposure can also lead to decreased GFR and chronic renal failure manifested by: aminoaciduria, glucosuria, hypercalcuria, hyperphosphaturia, polyuria,[atsdr.cdc.gov]

  • Metabolic Disorder of Amino Acids

    Abnormal results The blood plasma amino acid pattern is abnormal in overflow aminoaciduria and is normal in renal aminoaciduria.[medical-dictionary.thefreedictionary.com] There are two types of aminoacidurias. Primary or overflow aminoaciduria results from deficiencies in the enzymes necessary to metabolize amino acids.[medical-dictionary.thefreedictionary.com] Overflow aminoaciduria is best detected by a blood plasma test.[medical-dictionary.thefreedictionary.com]

  • Tyrosinemia Type 1

    Before starting NTBC therapy, all children manifested signs of renal dysfunction which included hypophosphatemia, acidosis, reduced phosphate reabsorption, aminoaciduria,[ncbi.nlm.nih.gov] Plasma amino acid analysis showed markedly elevated tyrosine, methionine and urine amino acid analysis was suggestive of Fanconi syndrome showing generalized aminoaciduria[kjp.or.kr] Renal manifestations present as a Fanconi syndrome, and include hypophosphatemia, aminoaciduria, and renal tubular acidosis (1, 2, 6).[path.upmc.edu]

  • Hereditary Fructose Intolerance

    Urine metabolic screening results may also provide evidence of glucosuria, proteinuria, and aminoaciduria, all of which are part of Renal Fanconi syndrome.[namrata.co] Vomiting and hypoglycemia follow intake of fructose; prolonged fructose ingestion in affected young children results in failure to thrive, jaundice, hepatomegaly, albuminuria, aminoaciduria[medical-dictionary.thefreedictionary.com] The cause of renal tubular dysfunction also remains unclear; patients with renal tubular dysfunction primarily present with a proximal tubular acidosis complicated by aminoaciduria[namrata.co]

  • Hartnup Disease

    Aminoaciduria is the one consistent feature.[symptoma.com] Intermediate aminoaciduria was also found with atypical amino acids pattern.[ncbi.nlm.nih.gov] Hartnup disease was suspected and was confirmed by neutral aminoaciduria. Niacin was started and followed by dramatic improvement.[ncbi.nlm.nih.gov]

  • Cystinosis

    Based on the presence of parental consanguinity as well as polyuria, proteinuria, low tubular reabsorption of phosphorus, generalized aminoaciduria, light yellow skin and[ncbi.nlm.nih.gov] Aminoaciduria is usually not present and growth is normal. The adult-onset or benign type is also uncommon.[disorders.eyes.arizona.edu] It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction.[icd10data.com]

  • D-Glyceric Aciduria

    Seite 300 - Hartnup disease53 is a gross aminoaciduria, where alanine, serine, threonine, asparagine, glutamine, valine, leucine, isoleucine, phenylalanine, tyrosine, tryptophan[books.google.com] Imidazole aminoaciduria 4. Formiminoglutamic aciduria 5. Carnosinuria 6. Canavan disease 7. Glutathione synthetase deficiency 8.[metascreen.com.hk] Ornithine X X X ---Cystine X X X Lysinuric protein intolerance X ---Arginine X X X ---Glutamine X X X ---Lysine X X X ---Ornithine X X X ---*Orotic acid X X X Dicarboxylic aminoaciduria[biochemweb.slu.edu]

  • Hemolytic Anemia due to Deficient Glutathione Synthesis

    Seite 300 - Hartnup disease53 is a gross aminoaciduria, where alanine, serine, threonine, asparagine, glutamine, valine, leucine, isoleucine, phenylalanine, tyrosine, tryptophan[books.google.com] In addition, two sibs also had spinocerebellar degeneration, peripheral neuropathy, myopathy, and aminoaciduria.[ommbid.mhmedical.com] Gamma-glutamylcysteine synthetase deficiency is also associated with hemolytic anemia, and some patients with this disorder show defects of neuromuscular function and generalized aminoaciduria[hero.epa.gov]

  • Lysinuric Protein Intolerance

    […] type 2, or familial protein intolerance); hyperdibasic aminoaciduria type 1; and isolated lysinuria (lysine malabsorption syndrome).[ommbid.mhmedical.com] Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in[ncbi.nlm.nih.gov] Cystinuria and lysinuric protein intolerance are inherited aminoacidurias caused by defective amino-acid transport activities linked to a family of heteromeric amino-acid[ncbi.nlm.nih.gov]

  • Greenberg Dysplasia

    Seite 140 - Hartnup disease53 is a gross aminoaciduria, where alanine, serine, threonine, asparagine, glutamine, valine, leucine, isoleucine, phenylalanine, tyrosine, tryptophan[books.google.de] Página 392 - Evaluation of Familial Biochemically Determined Mental Retardation in Children, With Special Reference to Aminoaciduria; The New England Journal of Medicine,[books.google.es]

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