I-Methylmalonic acidemia

I-Methylmalonic acidemia yisifo lapho umzimba ungeke ukwazi ukudiliza amaprotheni athile namafutha. Umphumela uba ukwakheka kwento ebizwa nge-methylmalonic acid egazini. Lesi simo sidluliselwa ngemindeni.

Ngenye yezimo eziningana ezibizwa ngokuthi "iphutha esizalwa nalo lokugaya umzimba."

Lesi sifo sitholakala kakhulu onyakeni wokuqala wokuphila. Kuyisifo se-autosomal recessive. Lokhu kusho ukuthi isakhi sofuzo esinesici kufanele sidluliselwe enganeni ivela kubo bobabili abazali.

Usana olusanda kuzalwa olunalesi simo esingajwayelekile lungafa ngaphambi kokuba lutholwe. I-Methylmalonic acidemia ithinta abafana namantombazane ngokulinganayo.

Izingane zingabonakala zivamile lapho zizalwa, kodwa ziba nezimpawu lapho ziqala ukudla amaprotheni amaningi, okungadala ukuthi isimo sibe sibi kakhulu. Lesi sifo singadala ukuquleka nesifo sohlangothi.

Izimpawu zifaka:

• Isifo sobuchopho esiya siba sibi kakhulu (encephalopathy eqhubekayo)
• Ukuphela kwamanzi emzimbeni
• Ukubambezeleka kwentuthuko
• Ukwehluleka ukuchuma
• Imikhuba emibi
• Ukuquleka
• Ukuhlanza

Ukuhlolelwa i-methylmalonic acidemia kuvame ukwenziwa njengengxenye yokuhlolwa kokuzalwa kwezingane ezisanda kuzalwa. UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-United States uncoma ukuhlolwa kwalesi simo lapho kuzalwa ngoba ukutholwa nokwelashwa kusenesikhathi kuyasiza.

Ukuhlolwa okungenziwa ukuthola lesi simo kufaka:

• Ukuhlolwa kwe-ammonia
• Amagesi egazi
• Qedela ukubalwa kwegazi
• I-CT scan noma i-MRI yobuchopho
• Amazinga e-Electrolyte
• Ukuhlolwa kofuzo
• Ukuhlolwa kwegazi kweMethylmalonic acid
• Ukuhlolwa kwe-Plasma amino acid

Ukwelashwa kuqukethe izithasiselo ze-cobalamin ne-carnitine kanye nokudla okune-protein ephansi. Ukudla kwengane kumele kulawulwe ngokucophelela.

Uma izithasiselo zingasizi, umhlinzeki wezokunakekelwa kwempilo futhi angancoma indlela yokudla evikela izinto ezibizwa nge-isoleucine, threonine, methionine, ne-valine.

Ukufakelwa kwesibindi noma izinso (noma kokubili) kukhonjisiwe ukusiza ezinye iziguli. Lokhu kufakelwa kunikeza umzimba amaseli amasha asiza ukubola kwe-methylmalonic acid ngokujwayelekile.

Izingane zingase zingasindi isiqephu sazo sokuqala sezimpawu ezikulesi sifo. Labo abasinda bavame ukuba nezinkinga ngokuthuthuka kwesistimu yezinzwa, yize ukukhula okujwayelekile kokuqonda kungenzeka.

Izinkinga zingafaka:

• I-Coma
• Ukufa
• Ukuhluleka kwezinso
• I-Pancreatitis
• I-Cardiomyopathy
• Izifo eziphindaphindayo
• I-Hypoglycemia

Funa usizo lwezokwelapha ngokushesha uma ingane yakho iquleka okokuqala ngqa.

Bheka umhlinzeki uma ingane yakho inezimpawu ze:

• Ukwehluleka ukuchuma
• Ukubambezeleka kwentuthuko

Ukudla okunamaprotheni amancane kungasiza ukunciphisa inani lokuhlaselwa. Abantu abanalesi simo kufanele bagweme labo abagula izifo ezithathelwanayo, njengemikhuhlane nomkhuhlane.

Ukwelulekwa ngofuzo kungasiza imibhangqwana enomlando womndeni walesi sifo efisa ukuba nengane.

Kwesinye isikhathi, ukukhuliswa kokuzalwa kwezingane okwandayo kwenziwa lapho kuzalwa, kufaka phakathi ukuhlolwa kwe-methylmalonic acidemia. Ungabuza umhlinzeki wakho ukuthi ngabe ingane yakho ibe nalokhu kuhlolwa.

I-Gallagher RC, i-Enns GM, i-Cowan TM, i-Mendelsohn B, i-Packman S. Aminoacidemias kanye nama-organic acidemias. Ku: Swaiman KF, Ashwal S, Ferriero DM, et al, abahleli. I-Swaiman's Pediatric Neurology. Umhlaka 6. Elsevier; 2017: isahluko 37.

IKliegman RM, iSt. Geme JW, iBlum NJ, i-Shah SS, iTasker RC, iWilson KM. Amaphutha ku-metabolism yama-amino acid. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahl. 103.

IMadan-Khetarpal S, i-Arnold G.Izinkinga zofuzo nezimo ze-dysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 1.