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34 Possible Causes for Diaminoaciduria (Arginuria, Lysinuria, Cystinuria, Ornithinuria), Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Hyperdibasic Aminoaciduria Type 1

    In hyper-argininemia, there is a progressive spastic diplegia or quadriplegia that has also been observed in HHH and can be the presenting sign.[obgynkey.com] Symptoms via clinical synopsis from OMIM: 57 Neuro: mental retardation Misc: adverse reaction to phenothiazines GI: intestinal malabsorption Lab: dibasicaminoaciduria lysinuria ornithinuria[malacards.org] […] diagnostic tests--cyanide-nitroprusside test, semi-quantitative thin-layer chromatography, and quantitative amino acid column chromatography--of 43 patients with classic cystinuria[pdfs.semanticscholar.org] The Japanese patient with isolated lysinuria has severe growth failure, seizures, and mental retardation.[ommbid.mhmedical.com] 8163273 ) extensive fatty change in hepatocytes ( 8163273 ) pulmonary alveolar proteinosis glomerulonephritis with predominant IgA deposition ( 8163273 ) Laboratory lysinuria ornithinuria[humpath.com] […] l-lysine and l-arginine on the tubular reabsorption of dibasic amino acids and cystine was studied in normal individuals and in homozygous and heterozygous subjects with cystinuria[clinsci.org]

    Missing: Diaminoaciduria (Arginuria Mutation in the VPS53 Gene
  • Hyperargininemia

    Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.[uniprot.org] Laboratory findings include hyperammonemia, hyperarginemia, di-amino-aciduria (arginuria, lysinuria, cystinuria, ornithinuria), oroticaciduria, pyrimidinuria, and elevated[accessanesthesiology.mhmedical.com] A characteristic cystine-lysinuria pattern of urinary amino acids was also seen.[ncbi.nlm.nih.gov] Both patients showed marked hyperargininuria (up to 370 times normal), prominent lysinuria, cystinuria, and ornithinuria, and a milder generalized amino aciduria.[nature.com] Hyperornithinemia and ornithinuria were recognized as the biochemical marker for this disorder in 1973.[easternbiotech.com] In the urine on day 2 a typical cystinuria pattern was present. Arginine concentration in serum increased to 158 mumol/100 ml on the 41st day of life.[unboundmedicine.com]

    Missing: Diaminoaciduria (Arginuria Mutation in the VPS53 Gene
  • Lysine Intolerance

    8163273 ) extensive fatty change in hepatocytes ( 8163273 ) pulmonary alveolar proteinosis glomerulonephritis with predominant IgA deposition ( 8163273 ) Laboratory lysinuria ornithinuria[humpath.com] The Japanese patient with isolated lysinuria has severe growth failure, seizures, and mental retardation.[ommbid.mhmedical.com] J Biolog Chem 158:581–591 Google Scholar Coicadan L, Heyman M, Grasset E, Desjeux JF (1980) Cystinuria: Reduced lysine permeability at the brush border of intestinal membrane[link.springer.com] There are three types of cystinuria, distinguished by the mode of inheritance and by the pattern of the tubular amino-acid transport. [ 3 ] Cystinuria is an autosomal recessive[patient.info] Congenital lysinuria Hyperdibasic aminoaciduria LPI LPI - Lysinuric protein intolerance Bröer S. Lysinuric protein intolerance: one gene, many problems.[ghr.nlm.nih.gov] […] liver ( 8163273 ) extensive fatty change in hepatocytes ( 8163273 ) pulmonary alveolar proteinosis glomerulonephritis with predominant IgA deposition ( 8163273 ) Laboratory lysinuria[humpath.com]

    Missing: Diaminoaciduria (Arginuria Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Lysinuric Protein Intolerance

    […] hyperammonaemia, high plasma Citr, Ala, Gly, Glu, Ser levels, as well as citrullinuria, lysinuria, glutaminuria, alaninuria, argininuria, prolinuria, hydroxyprolinuria, ornithinuria[ncbi.nlm.nih.gov] Recently, the role of b(o, )AT (SLC7A9) in cystinuria (non Type I) and the role of y( )LAT-1 (SLC7A7) in lysinuric protein intolerance have been demonstrated.[ncbi.nlm.nih.gov] 8163273 ) extensive fatty change in hepatocytes ( 8163273 ) pulmonary alveolar proteinosis glomerulonephritis with predominant IgA deposition ( 8163273 ) Laboratory lysinuria ornithinuria[humpath.com] Lysinuric protein intolerance (LPI), an autosomal recessive defect of diamino acid transport, is characterized chemically by renal hyperdiaminoaciduria, especially lysinuria[ncbi.nlm.nih.gov] […] cellular localization of the defect in the kidney tubules is suggested by infusions of citrulline, which cause not only citrullinuria but also significant argininuria and ornithinuria[ommbid.mhmedical.com] Abstract Lysinuric protein intolerance (LPI) is an autosomal recessive defect of diamino acid transport characterised by massive diaminoaciduria, especially lysinuria, with[gut.bmj.com]

    Missing: Diaminoaciduria (Arginuria Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Cystinuria

    Although alternate names for the disorder include: cistinuria, cystine-lysinuria, cystine-lysine-arginine-ornithinuria and cystinuria dibasic amnioaciduria, the term cystinuria[encyclopedia.com] Additional features in this case, to the authors' knowledge not previously described in gyrate atrophy, are massive cystinuria, massive lysinuria, axial hypermetropia and[ncbi.nlm.nih.gov] Accordingly, the following types of cystinuria have been defined: Type I cystinuria / type A cystinuria patients are homozygous for SLC3A1 mutations.[symptoma.com] (Also known as/Symptoms) Cistinuria Cystine-Lysine-Arginine-Ornithinuria Cystinuria with Dibasic Aminoaciduria What is Cystinuria?[dovemed.com] Cystinuria Other names Cystinuria-lysinuria [permanent dead link] Sarica, Kemal; Yencilek, Faruk (2008).[en.wikipedia.org] Title Other Names: CSNU; Cystinuria-lysinuria Categories: Cystinuria is an inherited condition characterized by a buildup of the amino acid, cystine, in the kidneys and bladder[rarediseases.info.nih.gov]

    Missing: Diaminoaciduria (Arginuria Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Hyperlysinemia Type 1

    Progressive motor pathway degeneration results in positive Babinski sign and spastic diplegia or quadriplegia.[emedicine.medscape.com] See also Lysinuria Saccharopinuria References a b c Inborn error of amino acid metabolism ( E70–E72 , 270 ) K acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type[gutenberg.us] · Ornithine transcarbamylase deficiency / translocase deficiency · Citrullinemia · Argininosuccinic aciduria · Argininemia Transport / IE of RTT Solute carrier family : Cystinuria[wiki30.com] See also Lysinuria Saccharopinuria References a b c Inborn error of amino acid metabolism ( E70–E72, 270 ) K acetyl-CoA Lysine /straight chain Glutaric acidemia type 1 type[worldlibrary.org] Proteoglycans Homocystinuria Manifestation Ocular abnormalities Osteoporosis Skeletal abnormalities Mental retardation Cystathionuria Deficiency Cystathionuria Accumulation of Cystinuria[brainscape.com] […] deficiency Citrullinemia N-Acetylglutamate synthase deficiency Ornithine transcarbamylase deficiency / translocase deficiency Transport / IE of RTT Solute carrier family : Cystinuria[wikidoc.org]

    Missing: Diaminoaciduria (Arginuria Ornithinuria) Mutation in the VPS53 Gene
  • Carbamoyl Phosphate Synthetase Deficiency

    […] syndrome Congenital disorder of glycosylation Congenital dyserythropoietic anemia type II Congenital erythropoietic porphyria Congenital ichthyosis-intellectual disability-spastic[se-atlas.de] Arginine supplementation Argininemia (107830) Arginase I ARG1 (6q23)* Biochemical profile: Elevated plasma arginine, diaminoaciduria (argininuria, lysinuria, cystinuria, ornithinuria[msdmanuals.com] Transport and other disorders,輸送障害など 1. cystinuria,シスチン尿症 99% 2.[jc-metabolomics.com] Cystinuria type A Cystinuria type B D,L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria D-glyceric aciduria DDOST-CDG DK1-CDG DPAGT1-CDG DPM1-CDG DPM3-CDG Deafness-encephaloneuropathy-obesity-valvulopathy[se-atlas.de] […] trichorrhexis nodosa Treatment: Arginine supplementation Argininemia (107830) Arginase I ARG1 (6q23)* Biochemical profile: Elevated plasma arginine, diaminoaciduria (argininuria, lysinuria[msdmanuals.com] quadriplegia syndrome Congenital intrinsic factor deficiency Congenital lactase deficiency Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital microcephaly-severe[se-atlas.de]

    Missing: Diaminoaciduria (Arginuria Mutation in the VPS53 Gene
  • Hyperornithinemia

    In gyrate atrophy, ornithine concentration is increased 10- to 15-fold above normal in all body fluids with concomitant overflow ornithinuria.[path.upmc.edu] Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B 6 Summary In this report, an 8-year-old girl is presented[casereports.bmj.com] Transport and other disorders,輸送障害など 1. cystinuria,シスチン尿症 99% 2.[jc-metabolomics.com] Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B 6 Summary In this report, an 8-year-old girl is presented[casereports.bmj.com]

    Missing: Diaminoaciduria (Arginuria Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Aminoaciduria

    Although alternate names for the disorder include: cistinuria, cystine-lysinuria, cystine-lysine-arginine-ornithinuria and cystinuria dibasic amnioaciduria, the term cystinuria[encyclopedia.com] Many types are called by the name of the amino acid plus the suffix -uria, such as cystinuria, lysinuria, and tryptophanuria. a·mi·no·ac·i·du·ri·a ( ă-mē'nō-as-i-dyū'rē-ă[medical-dictionary.thefreedictionary.com] […] most likely due to a blockage by the drug of the renal tubular reabsorption of cystine, ornithine, lysine, and arginine, resulting in an aminoaciduria of the type seen in cystinuria[ncbi.nlm.nih.gov] There are three types of cystinuria, distinguished by the mode of inheritance and by the pattern of the tubular amino-acid transport. [ 3 ] Cystinuria is an autosomal recessive[patient.info] Genetic profile Cystinuria is a complex autosomal recessive disorder. Type I cystinuria is completely recessive; carriers have no manifestations.[encyclopedia.com] Management For a patient with cystinuria who does not have a stone, first-line therapy in most cases is a conservative approach.[patient.info]

    Missing: Diaminoaciduria (Arginuria Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Dihydropyrimidinuria

    […] diBasic amino acid transporter deficiency(intestinal mucosa, renal tubulues), cystinuria crystaluria, CYSTINE kidney stones (also lysinuria, argininuria & ornithinuria) treat[quizlet.com] ; SCL3A1 mutation Cystinuria; SCL7A9 mutation: c.1175C T Cystinuria; SCL7A9 mutation: c.706G A Cystinuria; SCL7A9 mutation: c.881A T Dihydropyrimidinuria Hyperoxaluria Polycystic[optimal-selection.com] HISTIDINURIA (MIM 235830) C HOMOCARNOSINOSIS (MIM 236130) B# HOMOCYSTINURIA (MIM 236200) A IMINOGLICINURIA FAMILIAR (MIM 242600) B# MAPLE SYRUP URINE DISEASE (MIM 248600) A LYSINURIA[cdemac.es] […] diBasic amino acid transporter deficiency(intestinal mucosa, renal tubulues), cystinuria crystaluria, CYSTINE kidney stones (also lysinuria, argininuria & ornithinuria) treat[quizlet.com] Cardiomyopathy (variant originally found in Ragdoll) Immune System Autoimmune Lymphoproliferative Syndrome Congenital Hypotrichosis with Short Life Expectancy Kidneys / Urinary Cystinuria[optimal-selection.com] 229100) A METHILMALONIC ACIDURIA Cbl A, Cbl B (MIM 251100; 25110) A MEVALONIC ACIDURIA (MIM 610377) B XANTHURENIC ACIDURIA (MIM 236800) A CYSTATHIONINURIA (MIM 219500) A CYSTINURIA[cdemac.es]

    Missing: Diaminoaciduria (Arginuria Mutation in the VPS53 Gene Progressive Spastic Quadriplegia

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