Aminoaciduria

I-Aminoaciduria lixabiso elingaqhelekanga le-amino acid kumchamo. Ii-amino acids zizitena zokwakha iiproteni emzimbeni.

Isampulu yomchamo ococekileyo iyafuneka. Oku kudla ngokwenziwa kwi-ofisi yomboneleli wakho wezempilo okanye kwiklinikhi yezempilo.

Uninzi lwexesha, awudingi ukuthatha manyathelo akhethekileyo ngaphambi kolu vavanyo. Qinisekisa ukuba umboneleli wakho uyawazi onke amayeza owasebenzisileyo kutshanje. Ukuba ngaba olu vavanyo lwenziwa kwimveku esancancisayo, qiniseka ukuba umboneleli uyazi ukuba ngawaphi amayeza awathathayo umama ongumongikazi.

Uvavanyo lubandakanya kuphela ukuchama okuqhelekileyo.

Olu vavanyo lwenziwa ukulinganisa amanqanaba e-amino acid kumchamo. Zininzi iintlobo ezahlukeneyo zeamino acid. Kuqhelekile ukuba ezinye zohlobo ngalunye zifumaneke kumchamo. Ukunyuka kwamanqanaba ee-amino acid kunokuba ngumqondiso wengxaki kwimetabolism.

Ixabiso elithile lilinganiswa nge-mmol / mol creatinine. Amaxabiso angezantsi abonisa uluhlu oluqhelekileyo kwiiyure ezingama-24 zomchamo kubantu abadala.

UAlanine: 9 ukuya ku-98

Arginine: 0 ukuya ku-8

I-Asparagine: i-10 ukuya kwi-65

Iaspartic acid: 5 ukuya ku-50

ICitrulline: 1 ukuya kwi-22

ICystine: 2 ukuya kwi-12

I-Glutamic acid: 0 ukuya ku-21

IGlutamine: 11 ukuya kwi-42

IGlycine: 17 ukuya kwi-146

Imbali: 49 ukuya ku-413

Isoleucine: 30 ukuya ku-186

ILeucine: 1 ukuya kwi-9

ILysine: 2-16

I-Methionine: 2 ukuya ku-53

I-Ornithine: 1 ukuya ku-5

I-Phenylalanine: 1 ukuya ku-5

Iproline: 3 ukuya kwi-13

ISerine: 0 ukuya kwi-9

I-Taurine: 18 ukuya kwi-89

I-Threonine: 13 ukuya ku-587

ITyrosine: 3 ukuya kwi-14

Ixabiso: 3 ukuya ku-36

Amaxabiso esiqhelo ahluka kancinci phakathi kweelebhu ezahlukeneyo. Thetha nomboneleli wakho malunga nentsingiselo yeziphumo zakho zovavanyo.

Imizekelo engentla ibonisa imilinganiselo eqhelekileyo yeziphumo zolu vavanyo. Ezinye iilabhoratri zisebenzisa imilinganiselo eyahlukeneyo okanye zinokuvavanya iisampulu ezahlukeneyo.

Ukunyusa umchamo wama-amino acid ngenxa yokuba:

• IAlkaptonuria
• Isifo seCanavan
• ICystinosis
• ICystathioninuria
• Ukunganyamezelani kweFructose
• IGalactosemia
• Isifo sehartnup
• Ukunyanga amalungu omzimba
• Hyperammonemia
• Hyperparathyroidism
• Isifo seMaple syrup
• Methylmalonic acidemia
• I-myeloma eninzi
• Ukusilela kwe-Ornithine transcarbamylase
• Osteomalacia
• Iprophicic acidemia
• Iirockets
• Uhlobo lweTyrosinemia 1
• Uhlobo lweTyrosinemia 2
• Intsholongwane yesibindi
• Isifo sikaWilson

Ukuhlola iintsana ngokwanda kwamanqanaba ee-amino acid kunokunceda ekufumaneni iingxaki kwimetabolism. Unyango kwangoko kwezi meko lunokuthintela iingxaki kwixa elizayo.

Ii-amino acid - umchamo; Ii-amino acid zomchamo

• Isampuli yomchamo
• Uvavanyo lomchamo lwe-Aminoaciduria

Ukutya DJ. Ii-amino acid, iipeptides, kunye neeproteni. Ku: Rifai N, ed. I-Tietz yeNcwadi yeKlinikhi yeKhemistry kunye neDiagnostics yeMolekyuli. Umhla wesi-6. ISt Louis, MO: Elsevier; I-2018: isahluko 28.

IKliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, iTasker RC, uWilson KM. Iziphene kwimetabolism yeeamino acid. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.

URiley RS, uMcPherson RA. Uvavanyo olusisiseko lomchamo. Ku: McPherson RA, Pincus MR, ii-eds. Ukuchongwa kweKlinikhi kaHenry kunye noLawulo ngeendlela zeLebhu. Umhla we-23. ISt Louis, MO: Elsevier; Ngo-2017: isahluko 28.