• Thumbnail for Aminoaciduria
    Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy kidney, the glomeruli filter all amino acids out of...
    4 KB (267 words) - 20:06, 6 May 2024
  • Thumbnail for Lysinuric protein intolerance
    Lysinuric protein intolerance Other names Hyperdibasic aminoaciduria type 2,Cationic aminoaciduria or Familial protein intolerance Lysine Specialty Endocrinology ...
    10 KB (903 words) - 19:53, 26 September 2024
  • Dicarboxylic aminoaciduria is a rare form of aminoaciduria (1:35 000 births) which is an autosomal recessive disorder of urinary glutamate and aspartate...
    7 KB (664 words) - 12:12, 14 October 2024
  • Thumbnail for Cystinuria
    cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former...
    14 KB (1,631 words) - 21:53, 4 October 2022
  • Thumbnail for Hartnup disease
    tryptophan) and tryptophan in the urine of patients as part of a generalized aminoaciduria of the disease. The excessive loss of tryptophan from malabsorption...
    9 KB (939 words) - 15:54, 4 November 2024
  • Thumbnail for Oculocerebrorenal syndrome
    cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered...
    8 KB (739 words) - 06:19, 16 November 2023
  • Thumbnail for Dent's disease
    >300 mg/d or >4 mg/kg per d with normal levels blood/serum calcium) Aminoaciduria (amino acids in urine) Phosphaturia (phosphate in urine) Glycosuria...
    12 KB (1,239 words) - 17:28, 19 September 2024
  • disorder Inborn branched chain aminoaciduria Inborn error of metabolism Inborn metabolic disorder Inborn renal aminoaciduria Inborn urea cycle disorder Incisors...
    7 KB (577 words) - 03:43, 30 March 2022
  • Thumbnail for Renal tubular acidosis
    Fanconi syndrome, in which there is also phosphaturia, glycosuria, aminoaciduria, uricosuria, and tubular proteinuria.[citation needed] The principal...
    19 KB (2,073 words) - 05:58, 19 July 2024
  • Thumbnail for Cystinosis
    and osteoporosis. Renal tubular disease is usually present causing aminoaciduria, glycosuria and hypokalemia. Cysteine deposition is most evident in...
    14 KB (1,501 words) - 12:47, 14 October 2024
  • Thumbnail for Cataract
    Metabolic and nutritional diseases[citation needed] Aminoaciduria or Lowe's syndrome Cerebrotendineous xanthomatosis Diabetes mellitus Fabry's disease...
    64 KB (6,612 words) - 17:52, 24 October 2024
  • Thumbnail for GRACILE syndrome
    GRACILE syndrome reported. GRACILE is an acronym for growth retardation, aminoaciduria (amino acids in the urine), cholestasis, iron overload, lactic acidosis...
    6 KB (609 words) - 05:52, 2 November 2023
  • Organic acidemia is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino...
    7 KB (711 words) - 07:18, 15 April 2024
  • Thumbnail for Proteinuria
    syphilis, hepatitis, poststreptococcal infection, urinary schistosomiasis) Aminoaciduria Fanconi syndrome in association with Wilson disease Hypertensive nephrosclerosis...
    21 KB (2,144 words) - 00:15, 19 May 2024
  • inflammatory processes are often referred to specifically as tubulitis. AA: Aminoaciduria; AD:autosomal dominant; AR: autosomal recessive; LFT's: Liver function...
    7 KB (160 words) - 04:00, 20 June 2024
  • are:[citation needed] Hypophosphatemia/hyperphosphaturia Glycosuria Proteinuria/aminoaciduria Hyperuricosuria In contrast to Hartnup disease and related tubular conditions...
    12 KB (1,203 words) - 07:10, 29 September 2024
  • Thumbnail for Congenital disorders of amino acid metabolism
    Hyperlysinemias Nonketotic hyperglycinemia Propionic acidemia Hyperprolinemia Cystinuria Dicarboxylic aminoaciduria Hartnup disease Glutaric acidemia type 2 v t e...
    2 KB (71 words) - 17:57, 21 April 2024
  • Thumbnail for Urinalysis
    Hemoglobinuria Bence Jones protein Small molecules Glycosuria Ketonuria Bilirubinuria Hyperuricosuria Aminoaciduria Other Bacteriuria Chyluria Crystalluria...
    67 KB (8,105 words) - 16:16, 2 November 2024
  • Thumbnail for Asperger syndrome
    at 65%. Reports have associated AS with medical conditions such as aminoaciduria and ligamentous laxity, but these have been case reports or small studies...
    115 KB (12,222 words) - 12:33, 6 November 2024
  • Thumbnail for X-linked recessive inheritance
    Lowe syndrome; hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets Menkes...
    15 KB (1,754 words) - 13:41, 12 August 2024
  • Thumbnail for Kidney stone disease
    Ozalp I, Tokatli A (1993). "Iminoglycinuria: a benign type of inherited aminoaciduria". The Turkish Journal of Pediatrics. 35 (2): 121–5. PMID 7504361. "Patient...
    132 KB (13,797 words) - 23:46, 18 October 2024
  • Arachindonic acid, absence of Arachnodactyly Arachnodactyly ataxia cataract aminoaciduria mental retardation Arachnodactyly mental retardation dysmorphism Arachnoid...
    24 KB (1,972 words) - 21:28, 16 August 2024
  • Thumbnail for Sodium/glucose cotransporter 2
    SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria". Kidney International. 67 (1): 34–41. doi:10.1111/j.1523-1755.2005...
    8 KB (948 words) - 03:26, 23 October 2024
  • Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as salts or amino acids, to be...
    1 KB (57 words) - 15:55, 8 July 2021
  • Thumbnail for Wilson's disease
    weakening of bones (due to calcium and phosphate loss), and occasionally aminoaciduria (loss of essential amino acids needed for protein synthesis). Heart:...
    42 KB (4,942 words) - 16:35, 2 November 2024
  • X linked Diastematomyelia Diastrophic dysplasia Dibasic aminoaciduria 2 Dibasic aminoaciduria type 1 Dicarboxylicaminoaciduria Die Smulders–Droog–Van...
    13 KB (1,155 words) - 22:52, 28 April 2024
  • Thumbnail for Sodium nitroprusside
    positive, indicating significant amounts of amino acids were in the urine (aminoaciduria). Cysteine, cystine, homocysteine, and homocystine all react when present...
    40 KB (4,132 words) - 21:09, 15 March 2024
  • which disappears after urination Hydronephrosis Fanconi syndrome triad Aminoaciduria, Proteinuria, Phosphaturia Fanconi syndrome Female athlete triad eating...
    10 KB (109 words) - 12:53, 21 September 2024
  • re-absorption capability of small molecules which give rises to hyper-aminoaciduria, glycosuria, hyperphosphaturia, and bicarbonate and dehydration), and...
    10 KB (1,034 words) - 01:53, 19 August 2023
  • called Fanconi syndrome where there is also phosphaturia, glycosuria, aminoaciduria, uricosuria and tubular proteinuria. Patients with type 2 RTA are also...
    9 KB (915 words) - 06:58, 2 March 2023