Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy kidney, the glomeruli filter all amino acids out of...
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Lysinuric protein intolerance (redirect from Dibasic aminoaciduria 2)
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
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
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
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
>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...
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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
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
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
GRACILE syndrome reported. GRACILE is an acronym for growth retardation, aminoaciduria (amino acids in the urine), cholestasis, iron overload, lactic acidosis...
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Organic acidemia (redirect from Inborn branched chain aminoaciduria)
Organic acidemia is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino...
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syphilis, hepatitis, poststreptococcal infection, urinary schistosomiasis) Aminoaciduria Fanconi syndrome in association with Wilson disease Hypertensive nephrosclerosis...
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inflammatory processes are often referred to specifically as tubulitis. AA: Aminoaciduria; AD:autosomal dominant; AR: autosomal recessive; LFT's: Liver function...
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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
Hyperlysinemias Nonketotic hyperglycinemia Propionic acidemia Hyperprolinemia Cystinuria Dicarboxylic aminoaciduria Hartnup disease Glutaric acidemia type 2 v t e...
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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
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
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
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
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 (redirect from Inborn renal aminoaciduria)
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
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
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