Phetoho ea metabolism ea dopamine le karabelo ea kalafo ka levodopa/carbidopa khaellong ea MCT8 

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Tlalehong ena, re batlisisitse mekhoa ea motheo ea mathata a ho sisinyeha ho Allan-Herndon-Dudley syndrome (AHDS) 'me ra hlahloba katleho ea kalafo ea levodopa/carbidopa. E tsejoang hape e le khaello ea monocarboxylate transporter 8 (MCT8), AHDS ke lefu la encephalopathy le amanang le X le sa tloaelehang haholo le bakoang ke mefuta e fapaneng ea pathogenic ho gene ea SLC16A2. Mefuta e fapaneng ea gene ena e sitisa ho tsamaisoa ha lihormone tsa thyroid (THs) ho pholletsa le mokoallo oa mali le boko ho qala nakong ea boimana. Sena se fella ka maemo a tlase a TH ka har'a tsamaiso ea methapo e bohareng 'me, ka lebaka leo, ho fetotsoe nts'etsopele ea boko ho pholletsa le baahi ba bangata ba lisele. 

Ka bongaka, ntle le lipontšo tsa endocrine, haholo-holo setšoantšo sa thyrotoxicosis ea peripheral e ka lebisang mathateng a tebileng a metabolism le a pelo, lefu lena le iponahatsa ka ho fokola ho hoholo ha methapo ea kutlo. Sena se kenyelletsa tieho e tebileng ea nts'etsopele le bokooa ba kelello, hypotonia ea axial, spasticity, lefu la sethoathoa le atisang ho hlaha, le matšoao a kantle ho pyramidal a lumellanang hantle le tlhaloso ea parkinsonism ea nts'etsopele. 

Hobane lihormone tsa thyroid li bohlokoa bakeng sa nts'etsopele ea lesea le sa tsoa emoloa le tlhahiso ea dopamine kamora ho beleha, re ile ra nahana hore mathata a motsamao a bonoang ho AHDS a bakoa ke ho senyeha ha potoloho ea dopaminergic. 

Ho leka khopolo-taba ena, re hlahlobile sehlopha sa bakuli ba leshome ba banna ba nang le mathata a ho sisinyeha ha methapo ea mali. Phuputso e ile ea lekanya li-amine tsa biogenic mokelikeling oa cerebrospinal (CSF) oa bakuli 'me ea shebella karabelo ea bona ea kliniki tekong ea levodopa/carbidopa ka tlhahlobo ea kliniki, likala tsa neuromotor tse sebetsang tse tloaelehileng, le ho nka video pele le ka mor'a teko. 

Tlhahlobo ea CSF e tiisitse ho ameha ha tsela ea dopaminergic. Maemo a homovanillic acid (HVA), e leng metabolite ea mantlha ea dopamine, a ne a le tlase ka lebaka la pathological ho bakuli ba bararo, ha bakuli ba supileng ho ba leshome ba bontšitse maemo a HVA karolong e tlase ka ho fetisisa ea lilemo tsa bona. 

Ka mora moo, bakuli ba robong ba ile ba etsa teko ea levodopa/carbidopa, e ileng ea fihla tekanyong e reriloeng ea 10 mg/kg/letsatsi. Karabelo ea bongaka e bile ntle haholo. Ka tekanyo e fetang 7 ho isa ho 8 mg/kg/letsatsi, bakuli ba supileng ho ba robong ba ile ba bontša ntlafatso e hlakileng litšobotsing tsa bona tsa parkinsonian. Ha e le hantle, bakuli ba bontšitse ho fokotseha ha hypokinesia le bradykinesia, hammoho le ntlafatso ea hypomimia, e leng se lumellang ponahalo ea sefahleho e hlakileng haholoanyane joalo ka ho bososela. Ho feta moo, bakuli ba bontšitse tlhokomelo e eketsehileng, tšebelisano-'moho ea sechaba, le karabelo ea ho amohela lintho tse susumetsang tikoloho. Le ha keketseho ea ts'ebetso ea 'mele e sa reroang e bakile dystonia ea ketso e hlahelletseng hanyane ho bakuli ba bang, boholo ba ba arabelitseng ba bone ntlafatso ka kakaretso lintlheng tsa bona tsa ts'ebetso ea 'mele (GMFM-88). 

Qetellong, phuputso ena e fana ka bopaki ba kliniki le ba biochemical ba hore ho senyeha ha potoloho ea dopaminergic ke karolo ea pathophysiology e rarahaneng ea AHDS. Liphuputso li totobatsa hore levodopa/carbidopa ke leano le sebetsang la kalafo bakeng sa ho fokotsa matšoao a extrapyramidal le ho ntlafatsa karabelo ea tikoloho ho bakuli ba nang le khaello ea MCT8. 

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