Hartnup tsis meej

Kev puas siab ntsws Hartnup yog kev mob caj ces uas muaj qhov tsis zoo hauv kev thauj qee cov amino acids (xws li tryptophan thiab histidine) los ntawm txoj hnyuv thiab lub raum.

Kev puas siab ntsws Hartnup yog qhov mob uas ua rau cov metabolism hauv cov amino acids. Nws yog ib qho mob muaj muaj. Tus mob no tshwm sim vim kev hloov hauv lub SLC6A19 noob. Ib tug menyuam yuav tsum tau txais ib daim ntawv theej ntawm cov xeeb ntxwv tsis zoo los ntawm ob leeg niam thiab txiv txhawm rau kom raug cuam tshuam loj.

Tus mob feem ntau tshwm sim thaum muaj hnub nyoog 3 txog 9 xyoos.

Cov neeg feem ntau tsis muaj mob. Yog tias cov tsos mob tshwm sim, lawv feem ntau tshwm sim thaum menyuam yaus thiab yuav suav nrog:

• Zawv plab
• Mus ob peb vas hloov
• Cov kab mob hauv lub paj hlwb (cov hlab hlwb) muaj teeb meem, xws li cov leeg tsis ua haujlwm thiab tsis ua haujlwm
• Cov tawv liab liab, nplaim tawv, feem ntau yog thaum tawv nqaij tiv tshav ntuj
• Rhiab mus rau lub teeb (photosensitivity)
• Luv luv

Tus kws kho mob yuav xaj kuaj zis mus rau theem siab ntawm cov amino acids tsis tu ncua. Cov theem ntawm lwm cov amino acids kuj tsis zoo.

Koj tus kws kho mob tuaj yeem sim cov noob uas ua rau tus mob no. Kev tshuaj ntsuam biochemical kuj tseem xaj.

Cov kev kho mob suav nrog:

• Zam kev tiv thaiv tshav ntuj los ntawm kev hnav khaub ncaws tiv thaiv thiab siv tshuaj pleev thaiv hnub nrog kev tiv thaiv 15 lossis siab dua
• Noj haus muaj protein ntau
• Noj tshuaj pab uas muaj cov nicotinamide
• Kev kho mob hlwb, xws li siv cov tshuaj tiv thaiv kev ntxhov siab lossis tswj lub siab, yog tias lub zog hloov pauv lossis lwm yam teeb meem mob hlwb

Cov neeg feem ntau uas muaj qhov tsis zoo no yuav cia siab tias yuav ua lub neej nyob uas tsis muaj qhov tsis taus. Muaj tsawg kawg, tau tshaj tawm tias muaj cov kab mob loj hauv lub paj hlwb thiab tseem tuag taus hauv cov tsev neeg uas muaj tus mob no.

Feem ntau, tsis muaj teeb meem. Teeb meem thaum lawv tshwm sim tuaj yeem suav nrog:

• Hloov cov xim tawv tawv uas nyob tas mus li
• Teeb meem mob hlwb
• Pob pob
• Kev txav tsis tau

Cov kab mob hauv lub cev feem ntau tuaj yeem thim rov qab. Txawm li cas los xij, hauv qee kis tsis yooj yim lawv tuaj yeem ua kom hnyav lossis tuag taus.

Hu rau koj tus kws kho mob yog tias koj muaj cov tsos mob ntawm tus mob no, tshwj xeeb yog koj muaj tsev neeg muaj keeb kwm muaj kev cuam tshuam Hartnup. Kev tawm tswv yim rau caj ces yog pom zoo yog tias koj muaj keeb kwm tsev neeg ntawm tus mob no thiab tab tom npaj lub cev xeeb tub.

Kev qhuab ntuas caj ces ua ntej sib yuav thiab xeeb tub yuav pab tiv thaiv qee qhov xwm txheej. Noj haus kom muaj protein ntau yuav tiv thaiv cov amino acid tsis txaus uas ua rau cov tsos mob.

Bhutia YD, Ganapathy V. Kev zom plab zom mov thiab kev nqus. Hauv: Hais HM, ed. Kev kho lub cev ntawm lub plab hnyuv plab hnyuv plab hnyuv taumCov. 6 tus ed. Philadelphia, PA: Elsevier; 2018: chap 47.

Gibson KM, Pearl PL. Cov teeb meem hauv lub cev tsis ua haujlwm ntawm lub cev thiab cov hlab ntsha poob siab. Hauv: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology nyob rau hauv Kev Soj NtsuamCov. 7 tus ed. Philadelphia, PA: Elsevier; 2016: chap 91.

Kliegman RM, Stanton BF, St. Geme JW, li al. Kev ua tsis taus ntawm cov metabolism hauv cov amino acids. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 103.