Methylmalonic acidemia

Methylmalonic acidemia ke boloetse boo 'mele o ke keng oa senya liprotheine le mafura a itseng. Phello ke bongata ba ntho e bitsoang methylmalonic acid maling. Boemo bona bo fetisoa ke malapa.

Ke e 'ngoe ea maemo a' maloa a bitsoang "phoso ea tlhaho ea metabolism."

Hangata lefu lena le fumanoa selemong sa pele sa bophelo. Ke bokuli bo fetelletseng ba autosomal. Sena se bolela hore lefutso le nang le sekoli le tlameha ho fetisetsoa ho ngoana ho tsoa ho batsoali ka bobeli.

Ngoana ea sa tsoa tsoaloa ea nang le boemo bona bo sa tloaelehang a ka shoa pele a ka fumanoa. Methylmalonic acidemia e ama bashanyana le banana ka ho lekana.

Masea a ka bonahala a tloaelehile nakong ea tsoalo, empa a ba le matšoao hang ha a qala ho ja liprotheine tse ngata, tse ka etsang hore boemo bo mpefale. Lefu lena le ka baka ho oa le ho tšoaroa ke lefu.

Matšoao a kenyelletsa:

• Lefu la boko le mpefala (encephalopathy e tsoelang pele)
• Ho felloa ke metsi 'meleng
• Ho lieha ho ntlafatsa
• Ho hloleha ho atleha
• Lethargy
• Ho oa
• Ho hlatsa

Ho lekoa bakeng sa methylmalonic acidemia hangata ho etsoa e le karolo ea tlhahlobo ea masea e sa tsoa tsoaloa. Lefapha la Bophelo le Litšebeletso tsa Botho la United States le khothaletsa ho hlahlojoa ha boemo bona nakong ea tlhaho hobane ho lemoha le ho fumana kalafo kapele ho thusa.

Liteko tse ka etsoang ho fumana boemo bona li kenyelletsa:

• Teko ea Ammonia
• Likhase tsa mali
• Palo e felletseng ea mali
• CT scan kapa MRI ea boko
• Methati ea elektrolyte
• Ho etsa liteko tsa lefutso
• Teko ea mali ea Methylmalonic acid
• Teko ea Plasma amino acid

Kalafo e na le li-supplement tsa cobalamin le carnitine le phepo e nepahetseng ea protheine. Lijo tsa ngoana li tlameha ho laoloa ka hloko.

Haeba litlatsetso li sa thuse, mofani oa tlhokomelo ea bophelo a ka boela a khothaletsa lijo tse qobang lintho tse bitsoang isoleucine, threonine, methionine le valine.

Ho fetisoa ha sebete kapa liphio (kapa ka bobeli) ho thusitse bakuli ba bang. Lisebelisoa tsena li fa 'mele lisele tse ncha tse thusang ho senya methylmalonic acid ka tloaelo.

Masea a kanna a se phele karolo ea 'ona ea pele ea matšoao a lefu lena. Ba pholohang hangata ba na le mathata ka nts'etsopele ea sistimi ea methapo, leha nts'etsopele e tloaelehileng ea ts'ebeliso ea kelello e ka hlaha.

Mathata a ka kenyelletsa:

• Coma
• Lefu
• Ho hloleha ha liphio
• Pancreatitis
• Cardiomyopathy
• Matšoao a tloaelehileng
• Hypoglycemia

Batla thuso ea bongaka hang-hang haeba ngoana oa hao a akheha ka lekhetlo la pele.

Sheba mofani oa thepa haeba ngoana oa hau a e-na le matšoao a:

• Ho hloleha ho atleha
• Ho lieha ho ntlafatsa

Lijo tse nang le protheine e tlase li ka thusa ho fokotsa palo ea litlhaselo. Batho ba nang le boemo bona ba lokela ho qoba ba kulang ba nang le mafu a tšoaetsanoang, joalo ka sefuba le ntaramane.

Keletso ea lefutso e ka thusa banyalani ba nang le nalane ea lelapa ea lefu lena ba lakatsang ho ba le ngoana.

Ka nako e 'ngoe, tlhaiso-leseling e sa tsoa tsoaloa e etsoa ha a hlaha, ho kenyeletsoa le tlhahlobo ea methylmalonic acidemia. O ka botsa mofani oa hau hore na ngoana oa hau o na le tlhaiso ena.

Gallagher RC, Enns GM, Cowan TM, Mendelsohn B, Packman S. Aminoacidemias le li-acidemias tsa manyolo. Ka: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology. La 6th. Elsevier; 2017: khaolo ea 37.

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.

Madan-Khetarpal S, Mathata a liphatsa tsa lefutso a Arnold G. le maemo a dysmorphic. Ka: Zitelli BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Physical Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 1.