ʻO ka maʻi Pompe ka inoa i hāʻawi pinepine ʻia iā "type II glycogenosis (GSD II)".

Kuhi ʻia kēia pathology e kahi hōʻiliʻili maʻamau o glycogen i loko o nā aʻa.

ʻO kēia glycogen kahi polymer o glucose. He karbohidrat i hana ʻia mai nā kaulahao lōʻihi o nā mole mole glucose, e hana ana i ka waihona nui o ka glucose i loko o ke kino a no laila lilo i kumu nui o ka ikehu no nā kānaka.

Aia nā ʻano like ʻole o ka maʻi e pili ana i nā ʻōuli a me nā mole kemika i loaʻa i nā aʻa. Manaʻo ʻia kekahi mau enzyme ke kuleana no kēia hōʻiliʻili maʻamau o glycogen. Hoʻopili kēia i ka glucose 6-phosphatase, I kaʻoloka- (1-6) -glucosidase akā ma luna o nā mea āpau maiα-1-4-glucosidase. (1)

ʻO kēia no ka loaʻa ʻana o ka enzyme hope i kahi ʻano acidic i loko o ke kino a hiki i ka hydrolyzing (luku ʻana i kahi kemika e ka wai) glycogen i loko o nā ʻāpana o glucose. No laila kēia hana molekole e alakaʻi i kahi intralysosomal (intracellular organelle i nā meaola eukaryotic) hōʻiliʻili o glycogen.

Hōʻike wale ʻia kēia hemahema α-1,4-glucosidase e kekahi mau lālā, a ʻo ka puʻuwai a me ka ʻiwi iwi. (2)

ʻO ka hopena o ka maʻi Pompe ka hopena o ka iwi a me nā ʻeha o ka hanu. ʻO ka maʻi puʻuwai Hypertrophic (ka mānoanoa o ke ʻano o ka naʻau) pili pinepine ʻia me ia.

Hoʻopili kēia maʻi i nā mākua i nā mea hou aʻe. Eia nō naʻe, ʻokoʻa nā ʻōuli e pili ana i ke ʻano o nā mākua a me nā ʻōuli e pili ana i ka pēpē pēpē. (2)

He hoʻoilina hoʻoilina ia e ka hoʻoili recessive autosomal.

Lawe ʻia ka moʻokūʻauhau encode i ka α-1,4-glucosidase enzyme e kahi autosome (non-sexual chromosome) a me ke kumuhana recessive i ʻelua mau alleles like i mea e hōʻike ai i nā phenotypic ʻano o ka maʻi.

No laila ʻike ʻia ka maʻi Pompe e kahi hōʻiliʻili o glycogen i nā lysosome o nā mākala iwi a me ka puʻuwai. Eia nō naʻe, hiki i kēia pathology ke hoʻopili i nā wahi ʻē aʻe o ke kino: ke ake, ka lolo a i ʻole ka iwi kuamoo.

ʻOkoʻa nā ʻōuli e pili ana i ke kumuhana i hoʻopili ʻia.

-ʻO ke ʻano e pili ana i ka hānau hou ka mea nui e ka maʻi puʻuwai hypertrophic. He puʻuwai puʻuwai ia me ka mānoanoa o ke ʻano o nā mākala.

- Ke ʻike pinepine ʻia ke ʻano pēpē ma waena o 3 a me 24 mau mahina. Hoʻomaopopo ʻia kēia palapala e nā maʻi hanu a i ʻole kū ʻole i ka hanu.

- Ke ʻano mākua, no kāna ʻāpana, hōʻike ʻia e ke komo ʻana o ka naʻau holomua. (3)

ʻO nā ʻōuli nui o ka type II glycogenosis:

- ka luhi muscular i ke ʻano o ka muscular dystrophies (nāwaliwali a me nā hoʻohaʻahaʻa o nā olonā o nā mākala e nalowale ko lākou nui) a i ʻole myopathies (hoʻonohonoho o nā maʻi e hoʻopili ana i nā mākala), nā hopena i ka luhi mau loa, ka ʻeha a me nā nāwaliwali nāwaliwali. ʻO nā mākala e hoʻopili ʻia e kēia maʻi he locomotor, nā hanu a me nā mākia puʻuwai.

- hiki ʻole i ka meaola ke hoʻohaʻahaʻa i ka glycogen i hōʻiliʻili ʻia i ka lysosome. (4)

ʻO ka maʻi Pompe kahi maʻi hoʻoilina. ʻO ka hoʻololi ʻana o kēia pathology he recessive autosomal. No laila ke hoʻouna ʻia nei o kahi gen mutated (GAA), aia ma kahi autosome (chromosome non-sex) aia ma ka chromosome 17q23. Eia hou, pono i ke kumuhana recessive ke komo i ka gen mutated i kope ʻia e hoʻomohala i kahi phenotype e pili ana i kēia maʻi. (2)

ʻO ka hoʻoili hoʻoilina o kēia gen mutated hopena i kahi hemahema o ka enzyme α-1,4-glucosidase. ʻAʻole lawa kēia glucosidase, no laila ʻaʻole hiki ke hoʻohaʻahaʻa ʻia ka glycogen a laila hōʻiliʻili ʻia i nā aʻa.

ʻO nā kumu pilikia no ka hoʻomohala ʻana i ka maʻi Pompe e moe wale ana i ka genotype makua. ʻOiaʻiʻo, ke kumu o kēia pathology he hoʻoilina hoʻoilina autosomal, koi ia i nā mākua ʻelua e lawe i ka gen mutated encoding i ka hemahema enzymatic a loaʻa kēlā me kēia o kēia mau gen i nā hunaola o ke keiki hānau hou i haki ka maʻi.

No laila hoihoi ka ʻike pre-natal i ka ʻike i nā pilikia e ulu ai ke keiki i kēlā ʻano maʻi.

ʻO ka hōʻailona o ka Pompe Disease e hana koke ʻia.

Hoʻomaopopo koke ʻia ke ʻano pēpē ma o ka hoʻonui ʻia ʻana o nā mākala puʻuwai. ʻO ke kuhi o kēia ʻano maʻi e pono e hana me ka wikiwiki a pono e kau i ka lāʻau i ka wā hiki wawe. ʻOiaʻiʻo, i kēia pōʻaiapili, komo wikiwiki ka wānana waiwai o ke keiki.

No ke ʻano "lohi" o ka wā kamaliʻi a me nā mākua, pilikia ka poʻe maʻi e lilo i kaukaʻi (noho huila, kōkua hanu, a me nā mea ʻē aʻe) me ka loaʻa ʻole o ka lāʻau. (4)

Hoʻokumu nui ʻia ka diagnostics ma kahi hoʻokolohua koko a me kahi hoʻokolohua kikoʻī kikoʻī no ka maʻi.

Aia ke kānana biologia i ka hōʻike o kahi deficit enzymatic.

Hiki nō hoʻi ke ʻike i kahi diagnostical pre-natal. ʻO ke ana o ka hana enzymatic i loko o ke kuhi o kahi biopsy trophoblast (kahi huna pūnaewele i hana ʻia e nā fibroblast e hāpai ana i ka placenta i ke kolu o ka malama o ka hāpai ʻana). A i ʻole e kuhikuhi ʻana i nā hoʻololi kikoʻī i nā hunaola fetal i ke kumuhana i hoʻopilikia ʻia. (2)

Kau ʻia ka enzyme replacement therapy no kekahi kumuhana me ka maʻi Pompe. ʻO kēia alglucosidase-α. He kūpono kēia mālama ʻana i ka enzyme recombinant no ka hana mua akā ʻaʻole naʻe, ua hōʻoia ʻia he mea maikaʻi i nā ʻano hoʻomaka mua. (2)