Ọrịa Neu-Laxova
Neu-Laxova syndrome burukwa Neu syndrome, Neu-Povysilova syndrome; maobu 3-phosphoglycerate dehydrogenase deficiency, udi neonate) bu udi nsogbu nke autosomal recessive nke amara n'ihe nkwusi uto intrauterine na otutu congenital malformation. Neu-Laxova syndrome bu ezigbo nsogbu nke na ebute onwu nwa n'ime ago maobu ozigbo amuchara nwa. Obu Dr. Richard Laxova but onye mbu kowara ya n'afo 1971 na kwa Dr. Renata Laxova n'afo 1972 [1] [2] dị ka nsogbu na-egbu egbu n'ime ụmụnne nwere ọtụtụ nkwarụ.[3] Ọrịa Neu-Laxova bụ nsogbu a na-adịghị ahụkebe nke na-erughị 100 ndị a kọrọ na akwụkwọ ahụike.
Ihe ịrịba ama na mgbaàmà
[dezie | dezie ebe o si]Ọrịa Neu-Laxova na-egosi nnukwu nkwarụ na-eduga n'ọnwụ nwa amụrụ ma ọ bụ nwa amụrụ ọhụrụ. Dị ka ọ na-adịkarị, NLS na-agụnye ọdịdị ihu, mbelata mmegharị nwa e bu n'afọ na nsogbu akpụkpọ ahụ.[4]Ụmụ ọhụrụ ma ọ bụ ụmụ ọhụrụ nwere ọrịa Neu-Laxova nwere ọdịdị ihu nke gụnyere proptosis (anya buru ibu) na nkwarụ anya, nkwarụ imi, ọnụ gburugburu na oghere, micrognathia (obere agbà) na obere ma ọ bụ ntị nwere nkwarụ. Enwere ike inwe nkwarụ ihu ndị ọzọ, dị ka egbugbere ọnụ ma ọ bụ ọnụ ọnụ. Ọrịa ụkwụ na ụkwụ bụ ihe a na-ahụkarị ma na-agụnye mkpịsị aka (syndactyly), aka ma ọ bụ ụkwụ. Tụkwasị na nke a, ọzịza na nkwarụ na-adịkarị. Ihe ndị ọzọ nke NLS bụ nnukwu Mgbochi uto intrauterine, nsogbu akpụkpọ ahụ (ichthyosis na hyperkeratosis) na mbelata mmegharị.Nsogbu na usoro akwara etiti na-adịkarị ma nwee ike ịgụnye microcephaly, lissencephaly ma ọ bụ microgyria, hypoplasia nke cerebellum na agenesis nke corpus callosum. Enwekwara nkwarụ ndị ọzọ, dị ka nkwarụ nke akwara. [citation needed]
Mkpụrụ ndụ ihe nketa
[dezie | dezie ebe o si]Ọrịa Neu-Laxova bụ nsogbu metabolic dịgasị iche iche nke homozygous ma ọ bụ ngwakọta heterozygous mutations kpatara n'otu n'ime mkpụrụ ndụ ihe nketa atọ: PHGDH, PSAT1 na PSPH [5] Mkpụrụ ndụ ihe nkịta ndị a na-etinye aka na ụzọ serine biosynthesis ma dị mkpa maka Mmụba nke mkpụrụ ndụ.[6]A chọpụtala mgbanwe na mkpụrụ ndụ ihe nketa atọ ahụ n'oge gara aga dị ka ihe na-akpata ọrịa serine-deficiency. Ọ bụ ezie na e nwere ụfọdụ njikọ ahụike n'etiti NLS na nsogbu neurometabolic ndị a, phenotype na nsogbu ndị ọzọ nke nkwarụ serine dị nro.
Nnyocha
[dezie | dezie ebe o si]Nnyocha ahụ na-adabere na ihe ndị dị na ya mgbe a mụrụ ya.Ultrasound na nkeji atọ nke abụọ nwere ike igosi nsogbu ndị metụtara NLS, gụnyere polyhydramnios, Mgbochi uto intrauterine, microcephaly, proptosis na mbelata motility nwa. [citation needed]
Ọgwụgwọ
[dezie | dezie ebe o si]Mgbakwunye Serine na glycine egosila uru na-anwa n'ime ndị nwere nkwarụ serine biosynthesis na ụdị NLS dị nro.[7]
Ihe omuma
[dezie | dezie ebe o si]Ọnọdụ ahụ adịghị mma; ndị nwere nsogbu bụ ndị a amụrụ nwụrụ anwụ ma ọ bụ ndị nwụrụ anwụ obere oge amuchara. Ogologo ndụ a kọrọ n'akwụkwọ bụ ụbọchị 134. [citation needed] A na-ebute ọrịa a dị ka nsogbu autosomal recessive ma enwere ihe ize ndụ maka ịlọghachi nke 25% na ime ime ime n'ọdịnihu.
- ↑ Neu–Laxova syndrome
- ↑ Neu (March 1, 1971). "A Lethal Syndrome of Microcephaly with Multiple Congenital Anomalies in Three Siblings". Pediatrics 47 (3): 610–612. DOI:10.1542/peds.47.3.610. PMID 5547878.
- ↑ Laxova (March 1972). "A further example of a lethal autosomal recessive condition in sibs". Journal of Intellectual Disability Research 16 (1–2): 139–143. DOI:10.1111/j.1365-2788.1972.tb01585.x. PMID 4671862.
- ↑ Manning (March 2004). "Neu–Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review". American Journal of Medical Genetics Part A 125A (3): 240–249. DOI:10.1002/ajmg.a.20467. PMID 14994231.
- ↑ Shaheen (June 2014). "Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH". American Journal of Human Genetics 94 (6): 898–904. DOI:10.1016/j.ajhg.2014.04.015. PMID 24836451.
- ↑ Acuna-Hidalgo (September 2014). "Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway". American Journal of Human Genetics 95 (3): 285–293. DOI:10.1016/j.ajhg.2014.07.012. PMID 25152457.
- ↑ Hart (2007). "Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway". The American Journal of Human Genetics 80 (5): 931–937. DOI:10.1086/517888. ISSN 0002-9297. PMID 17436247.