Phenylketonuria cuta ce da ke tattare da rashin jituwa (ko ba metabolization) na phenylalanine.

Phenylalanine shine amino acid mai mahimmanci tare da muhimmiyar rawa a cikin tsarin juyayi ta hanyar ƙarfafa glandar thyroid. Hakanan amino stimulant ne. Wannan amino acid ba jiki ne ya haɗa shi ba don haka dole ne a ba shi by abinci. Lallai, phenylalanine yana ɗaya daga cikin abubuwan da ke tattare da duk abincin da ke ɗauke da sunadarai na asalin dabbobi da kayan lambu: nama, kifi, kwai, soya, madara, cuku, da sauransu.

Cutar cuta ce da ba a saba ganin irinta ba wacce ke shafar 'yan mata da samari, ba tare da wani fifiko ba.

Idan ba a gano cutar da wuri ba don saurin magani, tarin wannan abu na iya faruwa a cikin jiki kuma musamman a cikin tsarin juyayi. Da yawa phenylalanine a cikin kwakwalwa mai tasowa yana da guba.

Yawan sinadarin phenylalanine da ke cikin jiki ana fitar da shi ta tsarin koda don haka ana samun shi a cikin fitsarin mai haƙuri, a cikin nau'in phenylketones. (2)

A Faransa, gwajin gwajin phenylalanine yana da tsari a lokacin haihuwa: Gwajin Guthrie.

Yaduwar (yawan mutanen da ke da cutar a cikin yawan jama'a a wani lokaci), ya dogara da ƙasar da abin ya shafa kuma yana iya bambanta tsakanin 1 /25 da 000 /1.

A Faransa, yawan phenylketonuria shine 1 / 17. (000)

Ana kula da wannan cutar tare da rage cin abinci mai ƙarancin furotin don rage matakin phenylalanine a jikin majiyyaci da iyakance lalacewar kwakwalwa.

Farkon maganin cutar yawanci yana hana ci gaban alamu.

Bugu da ƙari, ƙarshen jiyya wanda ke haifar da tarawar wannan ƙwayoyin a cikin kwakwalwa yana da sakamako na musamman: (3)

- matsalolin koyo;

- cututtuka na hali;

- cututtukan farfaɗiya;

- eczema.

An nuna nau'ikan cutar guda uku bayan gwajin jini yayin haihuwa: (2)

- phenylketonuria na al'ada: tare da phenylalaninemia (matakin phenylalanine a cikin jini) fiye da 20 mg / dl (ko 1 μmol / l);

-phenylketonuria atypical: tare da matakin tsakanin 10 zuwa 20 mg / dl (ko 600-1 µmol / l);

- Hyperphenylalaninemia na matsakaici (HMP) inda phenylalaninemia bai wuce 10 mg / dl (ko 600 μmol / l) ba. Wannan nau'in cutar ba mai tsanani bane kuma kawai yana buƙatar sa ido mai sauƙi don gujewa duk wani tashin hankali.

Yin bincike na tsari a lokacin haihuwa yana ba da damar, a mafi yawan lokuta, don iyakance bayyanar alamomin cutar.

Maganin cutar ya dogara ne akan abinci mai ƙarancin furotin da sa ido kan phenylalaninemia shima yana taimakawa hana tarin phenylalanine a cikin jiki kuma musamman a cikin kwakwalwa. (2)

A yayin da ba a gano asalin jariri ba, alamun phenylketonuria suna bayyana da sauri bayan haihuwa kuma yana iya zama mai ƙarfi ko ƙasa da ƙarfi dangane da nau'in cutar.

Ana nuna waɗannan alamun ta:

- jinkiri a ci gaban tunanin ɗan yaro;

- jinkirin girma;

- microcephaly (ƙananan girman kwanyar da ba ta dace ba);

- girgiza da rawar jiki;

- eczema;

- amai;

- rikicewar halayyar (hyperactivity);

- matsalar mota.

A cikin yanayin hyperphenylalaninemia, maye gurbi a cikin kwayar halittar da ke sanya haɗin gwiwa don canza phenylalanine zuwa tyrosine (co-factor BHA) yana yiwuwa. Waɗannan rikice -rikice a cikin samar da tyrosine yana haifar da:

- fata mai kyau;

- gashin gashi.

Phenylalanine cuta ce ta gado da aka gada. Yana haifar da gadon rashi na autosomal. Wannan yanayin watsawa ya shafi autosome (ba chromosome na jima'i ba) kuma sakamakon sake dawowa yana haifar da buƙatar maudu'in ya sami kwafi biyu na maye gurbi don haɓaka ƙirar cutar. (4)

Asalin cutar shine maye gurbi na halittar PAH (12q22-q24.2). Wannan lambar ƙirar don enzyme da ke ba da izinin hydrolysis (lalata abu ta ruwa): phenylalanine hydroxylase.

Sabili da haka maye gurbi yana haifar da raguwar ayyukan phenylalanine hydroxylase sabili da haka phenylalanine daga abinci ba jiki ke sarrafa shi yadda yakamata. Don haka matakin wannan amino acid a cikin jinin abin da abin ya shafa yana ƙaruwa. Bayan ƙaruwa a cikin wannan adadin phenylalanine a cikin jiki, adanawarsa zai gudana a cikin gabobi da / ko kyallen takarda, musamman a cikin kwakwalwa. (4)

An nuna wasu maye gurbi a alakar cutar. Waɗannan canje-canje ne a matakin ƙwayoyin halittar BHA (haɗin gwiwa don canza phenylalanine zuwa tyrosine) kuma musamman sun shafi nau'in hyperphenylalaninemia. (1)

Abubuwan haɗarin haɗarin da ke tattare da cutar sune kwayoyin halitta. A zahiri, watsa wannan cutar yana faruwa ta hanyar canzawar motsin rai. Ko dai, cewa kasancewar alluran guda biyu da aka canza don kwayar halitta dole ne ya kasance a cikin mutum don haɓaka cutar.

A wannan ma'anar, kowane mahaifa na mutum mara lafiya dole ne ya sami kwafin halittar mutun. Saboda sigar recessive ce, iyayen da ke da kwafin guda ɗaya kawai na mutun ba ya nuna alamun cutar. Duk da haka, ana buƙatar su, kusan kashi 50% kowannensu, ga kowannensu ya watsa kwayar halittar mutun ga zuriya. Idan mahaifi da mahaifiyar yaron kowannensu yana watsa kwayar halitta mai rikitarwa, saboda haka batun zai sami alluran maye gurbi guda biyu sannan kuma zai haɓaka yanayin cutar. (4)

Sanin asalin phenylketonuria galibi ana yin shi ne ta hanyar shirin tantance haihuwa: gwajin tsarin jariri na yau da kullun. Wannan shine gwajin Guthrie.

 Ana ganin wannan gwajin yana da kyau idan matakin phenylalanine a cikin jini ya fi 3 mg / dl (ko 180 µmol / l). A cikin mahallin wuce gona da iri na phenylalaninemia, ana yin gwajin jini na biyu a cibiyar ta musamman don tabbatarwa ko a'a kasancewar phenylketonuria. Idan matakin phenylalanine har yanzu ya fi 3 mg / dl yayin sashi na biyu kuma ba a gano wata cutar da ke da alhakin ba, to ana yin ganewar asali. (2)

Yakamata a rarrabe ganewar wannan cuta daga na raunin BH4. Lallai, na ƙarshe shine halayyar hyperphenylalaninemia kuma yana buƙatar sa ido kawai. Yayin da gano kasancewar phenylketonuria a cikin batun yana buƙatar magani na musamman da ƙarancin abincin furotin. (1)

Babban magani na phenylketonuria shine saboda rage cin abinci a cikin phenylalanine, watau rage yawan cin abincin furotin. Dole ne a aiwatar da wannan ƙarancin abincin furotin da zaran an yi gwajin jariri. Dole ne a bi ta tsawon rayuwarsa kuma yana iya zama mai tsananin ƙarfi ko kaɗan dangane da batun da nau'in cutar. (2)

Baya ga wannan abincin da ya lalace a cikin phenylalanine, za a iya ba da sapropterin dihydrochloride ga mai haƙuri don rage cin abinci ya zama mai tsauri, ko ma cewa abincinsa ya kasance na al'ada. (2)

Bugu da ƙari, kariyar abinci mai wadatar amino acid (ban da phenylalanine), bitamin da ma'adanai na iya ba da shawarar don dawo da duk wani rashin daidaituwa a cikin waɗannan abubuwan saboda wannan abincin. (3)

Amfani da aspartame (mai zaki na wucin gadi da ake amfani da shi a cikin samfura da yawa kamar abubuwan sha na masana'antu, shirye-shiryen abinci, da sauransu) yakamata a guji gabaɗaya ga mutanen da ke da phenylketonuria. A zahiri, da zarar an sha, aspartame yana canzawa a cikin jiki zuwa phenylalanine. A wannan ma'anar, yana ƙara haɗarin tara wannan kwayar halitta a cikin jiki kuma yana haɗarin zama mai guba ga batun mara lafiya. Aspartame kuma yana cikin magunguna da yawa, ana buƙatar kulawa ta musamman daga marasa lafiya lokacin shan wasu magunguna.

Dangane da rigakafin, tun da yaduwar cutar ta gado ce, iyalai da cutar ta shafa za su iya samun taimakon jinsi da shawara.

Hasashen yana canzawa dangane da mai haƙuri da nau'in cutar.