I-Homocystinuria

I-Homocystinuria yisifo sofuzo esithinta imetabolism ye-amino acid methionine. Ama-amino acid ayizakhi zokwakha zempilo.

I-Homocystinuria izuzwe njengefa emindenini njengenkambiso eguquguqukayo ye-autosomal. Lokhu kusho ukuthi ingane kufanele izuze ifa lekhophi elingasebenzi lozalo kumzali ngamunye ukuze lithinteke kakhulu.

I-Homocystinuria inezici eziningi ezifanayo neMarfan syndrome, kufaka phakathi ukuguqulwa kwamathambo namehlo.

Izinsana ezisanda kuzalwa zibonakala ziphilile. Izimpawu zokuqala, uma zikhona, azicaci.

Izimpawu zingavela njengokuthuthuka okulindelwe kancane noma ukwehluleka ukukhula. Izinkinga ezibukwayo ezandayo zingaholela ekutholakaleni kwalesi simo.

Ezinye izimpawu zifaka:

• Ukukhubazeka kwesifuba (i-pectus carinatum, i-pectus excavatum)
• Gudluza izihlathi
• Amakhothamo aphezulu ezinyawo
• Ukukhubazeka kwengqondo
• Ungqongqoza amadolo
• Imilenze emide
• Ukuphazamiseka kwengqondo
• Ukubona eduze
• Iminwe ye-Spidery (arachnodactyly)
• Mude, wakha kancane

Umhlinzeki wezempilo angaqaphela ukuthi ingane yinde futhi izacile.

Ezinye izimpawu zifaka:

• Umgogodla ogobile (scoliosis)
• Ukukhubazeka kwesifuba
• Isuswe ilensi yeso

Uma kukhona ukungaboni kahle noma ukubona kabili, udokotela wamehlo (ophthalmologist) uzokwenza isivivinyo seso esihluziwe ukubheka ukuhlukaniswa kwelensi noma ukubona eduze.

Kungaba nomlando wamahlule egazi. Ukukhubazeka kwengqondo noma ukugula kwengqondo nakho kungenzeka.

Ukuhlolwa okunga-oda kufaka noma yikuphi okulandelayo:

• Isikrini se-Amino acid segazi nomchamo
• Ukuhlolwa kofuzo
• Ukuhlolwa kwesibindi nokuhlolwa kwe-enzyme
• I-x-ray yamathambo
• I-biopsy yesikhumba enesiko le-fibroblast
• Ukuhlolwa okujwayelekile kwamehlo

Alikho ikhambi le-homocystinuria. Cishe uhhafu wabantu abanalesi sifo baphendula ku-vitamin B6 (owaziwa nangokuthi i-pyridoxine).

Labo abazophendula bazodinga ukuthatha amavithamini B6, B9 (folate), kanye nama-B12 supplements impilo yabo yonke. Labo abangaziphenduli izithasiselo bazodinga ukudla ukudla okune-methionine ephansi. Iningi lizodinga ukwelashwa nge-trimethylglycine (umuthi owaziwa nangokuthi i-betaine).

Ukudla noma umuthi ophansi we-methionine noma umuthi ngeke kuthuthukise ukukhubazeka kwengqondo okukhona. Imithi nokudla kufanele kuhlolwe kakhulu ngudokotela onolwazi lokwelapha i-homocystinuria.

Lezi zinsizakusebenza zinganikeza imininingwane eminingi nge-homocystinuria:

• IHCU Network America - hcunetworkamerica.org
• Isethenjwa Sasekhaya se-NIH / NLM - ghr.nlm.nih.gov/condition/homocystinuria

Yize lungekho ikhambi le-homocystinuria, ukwelashwa kukavithamini B kungasiza cishe isigamu sabantu abathintekile yilesi simo.

Uma ukuxilongwa kwenziwa ebuntwaneni, ukuqala ukudla okuphansi kwe-methionine ngokushesha kungavimbela ukukhubazeka okuthile kobuhlakani nezinye izinkinga zesifo. Ngalesi sizathu, abanye bathi babheka i-homocystinuria kuzo zonke izingane ezisanda kuzalwa.

Abantu abanamazinga egazi e-homocysteine ​​aqhubeka nokukhuphuka basengozini enkulu yamahlule egazi. Amahlule angadala izinkinga ezinkulu zezempilo futhi anciphise isikhathi sokuphila.

Izinkinga ezinkulu kakhulu zenzeka ngenxa yamahlule egazi. Lezi ziqephu zingasongela impilo.

Ama-lens asuswe ngamehlo angalimaza kakhulu umbono. Kungadingeka ukuhlinzekwa kokufakwa esikhundleni kwelensi.

Ukukhubazeka kwengqondo kungumphumela omkhulu wesifo. Kepha, kungancishiswa uma kutholakala kusenesikhathi.

Shayela umhlinzeki wakho uma wena noma ilungu lomndeni likhombisa izimpawu zalesi sifo, ikakhulukazi uma unomlando womndeni we-homocystinuria.

Ukwelulekwa ngofuzo kunconywa kubantu abanomlando womndeni we-homocystinuria abafuna ukuba nezingane. Ukuxilongwa ngaphambi kokubeletha kwe-homocystinuria kuyatholakala. Lokhu kubandakanya ukukhulisa amaseli we-amniotic noma i-chorionic villi ukuze kuvivinywe i-cystathionine synthase (i-enzyme elahlekile ku-homocystinuria).

Uma kukhona ukukhubazeka kwezakhi zofuzo kubazali noma emndenini, amasampula avela kusampuli ye-chorionic villus noma i-amniocentesis angasetshenziselwa ukuhlola la maphutha.

Ukushoda kwe-cystathionine beta-synthase; Ukushoda kwe-CBS; HCY

• I-Pectus excavatum

USchiff M, Blom H. Homocystinuria kanye ne-hyperhomocysteinemia. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier Saunders; 2020: isahluko 198.

IShchelochkov OA, iVenditti CP. I-Methionine. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 103.3.