| dbo:abstract |
Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder. It is characterized by an abnormal accumulation of plasma cystathionine leading to excess cystathionine in the urine. Hereditary cystathioninuria is associated with the reduced activity of the enzyme cystathionine gamma-lyase. It is considered a biochemical anomaly. This is because it associated with a wide range of diseases and its inconsistency. Cystathionase catalyzes cystathionine to cysteine and α-ketobutyrate. Cysteine is an essential amino acid and its conversion from cystathionine occurs in the trans-sulfuration pathway. The availability of cysteine is necessary for the synthesis of an important anti-oxidant, glutathione. Cystathionase has a co-enzyme, pyridoxal phosphate, which is the active form the vitamin B6. This means that vitamin B6 is essential for the function of cystathionase. Cystathioninuria can be broken down into two main categories. Primary cystathioninuria is caused by the recessive inherited deficiency of cystathionase enzyme. Secondary cystathioninuria is described by non-genetic conditions of excess cystathionine. Secondary cystathioninuria includes temporary excess cystathionine of premature infants, severe generalized liver damage, thyrotoxicosis, hepatoblastoma, or neuroblastoma. Cases of secondary cystathioninuria are not responsive to vitamin B6 administration. (en) L'excès de cystathionine dans l'urine est appelée cystathioninurie. La cystathionine est un intermédiaire de la biosynthèse de la cystéine. Il est produit à partir de l'homocystéine et de la sérine par la cystathionine bêta-synthase et est clivé en cystéine et acide alpha-cétobutyrique par la cystathionine gamma-lyase. * Portail de la médecine (fr) |
| dbo:diseasesDB |
29671 |
| dbo:icd10 |
E72.1 |
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270.4 |
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219500 (xsd:integer) |
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wiki-commons:Special:FilePath/L-Cystathionine.svg?width=300 |
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dbr:Metabolic_disorder dbr:Homozygotes dbr:Cystathionine_gamma-lyase dbr:Creatinine dbr:Nonsense dbr:Genetic_carrier dbc:Autosomal_recessive_disorders dbr:Medical_genetics dbr:Autosomal dbr:Cystathionine dbc:Amino_acid_metabolism_disorders dbr:Autosome dbr:Recessive dbr:Heterozygotes dbr:Missense dbr:Single_nucleotide_polymorphism dbr:File:Autosomal_recessive_-_en.svg |
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dbr:Cystathionine |
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dbr:Medical_genetics |
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270.400000 (xsd:double) (en) E72.1 (en) |
| dbp:name |
Cystathioninuria (en) |
| dbp:omim |
219500 (xsd:integer) |
| dbp:synonyms |
Cystathionase deficiency (en) |
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| dbp:wordnet_type |
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| dcterms:subject |
dbc:Autosomal_recessive_disorders dbc:Amino_acid_metabolism_disorders |
| gold:hypernym |
dbr:Disorder |
| rdf:type |
owl:Thing wikidata:Q12136 yago:WikicatAminoAcidMetabolismDisorders yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Disease yago:State100024720 umbel-rc:AilmentCondition |
| rdfs:comment |
L'excès de cystathionine dans l'urine est appelée cystathioninurie. La cystathionine est un intermédiaire de la biosynthèse de la cystéine. Il est produit à partir de l'homocystéine et de la sérine par la cystathionine bêta-synthase et est clivé en cystéine et acide alpha-cétobutyrique par la cystathionine gamma-lyase. * Portail de la médecine (fr) Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder. It is characterized by an abnormal accumulation of plasma cystathionine leading to excess cystathionine in the urine. Hereditary cystathioninuria is associated with the reduced activity of the enzyme cystathionine gamma-lyase. It is considered a biochemical anomaly. This is because it associated with a wide range of diseases and its inconsistency. (en) |
| rdfs:label |
Cystathioninuria (en) Cystathioninurie (fr) |
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freebase:Cystathioninuria yago-res:Cystathioninuria http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/296 wikidata:Cystathioninuria dbpedia-fr:Cystathioninuria https://global.dbpedia.org/id/4j86m |
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wiki-commons:Special:FilePath/L-Cystathionine.svg wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
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wikipedia-en:Cystathioninuria |
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Cystathioninuria (en) |
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dbr:Cystathionase_deficiency |
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dbr:Cystathionine_gamma-lyase dbr:Cystathionine dbr:List_of_OMIM_disorder_codes dbr:Aspergillus_carneus dbr:Cystathionase_deficiency |
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dbr:Cystathionine |
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wikipedia-en:Cystathioninuria |
