Aminoaciduria

Aminoaciduria ke palo e sa tloaelehang ea li-amino acid ka har'a moroto. Li-amino acid ke lithibelo tsa liprotheine 'meleng.

Mohlala oa moroto o hloekileng o hlokahale. Hangata sena se etsoa ofising ea mofani oa tlhokomelo ea bophelo kapa tleliniking ea bophelo bo botle.

Boholo ba nako, ha o hloke ho nka mehato e khethehileng pele ho tlhahlobo ena. Etsa bonnete ba hore mofani oa hau o tseba meriana eohle eo u sa tsoa e sebelisa. Haeba tlhahlobo ena e etsoa ho lesea le anyesang, etsa bonnete ba hore mofani oa lona oa tseba hore na 'm'e ea anyesang o noa meriana efe.

Teko e kenyelletsa feela ho ntša metsi ka mokhoa o tloaelehileng.

Teko ena e etsoa ho lekanya maemo a amino acid moroto. Hona le mefuta e fapaneng ea liasiti tsa amino. Ho tloaelehile hore tse ling tsa mofuta o mong le o mong li fumanoe morotong. Maemo a eketsehileng a li-amino acid e ka ba sesupo sa bothata ba metabolism.

Boleng bo ikhethang bo lekantsoe ka mmol / mol creatinine. Litekanyetso tse ka tlase li emela mekhahlelo e tloaelehileng metsong ea batho ba baholo ea lihora tse 24.

Alanine: 9 ho isa ho 98

Arginine: 0 ho isa ho 8

Asparagine: 10 ho isa ho 65

Aspartic acid: 5 ho isa ho 50

Citrulline: 1 ho isa ho 22

Cystine: 2 ho isa ho 12

Asiti ea Glutamic: 0 ho isa ho 21

Glutamine: 11 ho isa ho 42

Glycine: 17 ho isa ho 146

Histidine: 49 ho isa ho 413

Isoleucine: 30 ho isa ho 186

Leucine: 1 ho isa ho 9

Lysine: 2 ho isa ho 16

Methionine: 2 ho ea ho 53

Ornithine: 1 ho isa ho 5

Phenylalanine: 1 ho isa ho 5

Proline: 3 ho isa ho 13

Serine: 0 ho isa ho 9

Taurine: 18 ho isa ho 89

Threonine: 13 ho ea 587

Tyrosine: 3 ho isa ho 14

Valine: 3 ho isa ho 36

Mekhahlelo e tloaelehileng ea boleng e ka fapana hanyane hara lilaboratori tse fapaneng. Bua le mofani oa hau ka moelelo oa sephetho sa hau sa liteko.

Mehlala e kaholimo e bonts'a litekanyo tse tloaelehileng bakeng sa liphetho bakeng sa liteko tsena. Li laboratori tse ling li sebelisa litekanyo tse fapaneng kapa li ka leka mefuta e fapaneng.

Keketseho e felletseng ea li-amino acid e ka bakoa ke:

• Alkaptonuria
• Boloetse ba Canavan
• Cystinosis
• Cystathioninuria
• Ho hloka mamello ha Fructose
• Galactosemia
• Lefu la Hartnup
• Homocystinuria
• Hyperammonemia
• Hyperparathyroidism
• Lefu la moroto oa sirapo ea maple
• Methylmalonic acidemia
• Myeloma e mengata
• Khaello ea Ornithine transcarbamylase
• Osteomalacia
• Propionic acidemia
• Li-rickets
• Mofuta oa 1 oa Tyrosinemia
• Mofuta oa 2 oa Tyrosinemia
• Hepatitis ea vaerase
• Lefu la Wilson

Ho hlahloba masea bakeng sa maemo a eketsehileng a li-amino acid ho ka thusa ho fumana mathata ka metabolism. Kalafo ea kapele ea maemo ana e ka thibela mathata nakong e tlang.

Li-amino acid - moroto; Li-amino acid tsa moroto

• Sampole ea moroto
• Teko ea moroto oa Aminoaciduria

DJ ea jang. Li-amino acid, li-peptide le liprotheine. Ka: Rifai N, ed. Tietz ea Buka ea Khemistri ea Kliniki le Diagnostics ea Limolek'hule. La 6th. St Louis, MO: Elsevier; 2018: khaolo ea 28.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Liphoso tsa metabolism ea amino acid. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 103.

Riley RS, McPherson RA. Tlhahlobo ea mantlha ea moroto. Ka: McPherson RA, Pincus MR, bahlophisi. Henry's Clinical Diagnosis le Tsamaiso ka Mekhoa ea Laboraro. La bo23 la ed. St Louis, MO: Elsevier; 2017: khaolo ea 28.