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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A12313%21RIV13-MZ0-00064165
rdf:type
n8:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1016/j.ymgme.2012.08.014
dcterms:description
We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month of age. SAHH deficiency was confirmed at 4.5 years of age by showing decreased SAHH activity (11% in both erythrocytes and fibroblasts), and compound heterozygosity for a known mutation c.145C > T (p.R49C) and a novel variant c.211G > A (p.G71S) in the AHCY gene. Retrospective analysis of clinical features revealed striking similarities between SAHH deficiency and the PMM2-CDG Ia. We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month of age. SAHH deficiency was confirmed at 4.5 years of age by showing decreased SAHH activity (11% in both erythrocytes and fibroblasts), and compound heterozygosity for a known mutation c.145C > T (p.R49C) and a novel variant c.211G > A (p.G71S) in the AHCY gene. Retrospective analysis of clinical features revealed striking similarities between SAHH deficiency and the PMM2-CDG Ia.
dcterms:title
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
skos:prefLabel
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
skos:notation
RIV/00064165:_____/12:12313!RIV13-MZ0-00064165
n8:predkladatel
n16:ico%3A00064165
n4:aktivita
n6:P n6:Z n6:I
n4:aktivity
I, P(NT12166), Z(MZ0VFN2005)
n4:cisloPeriodika
3
n4:dodaniDat
n19:2013
n4:domaciTvurceVysledku
n5:7786301 n5:6138225 n5:7314523 n5:5315263 n5:8943222 n5:6270875 n5:4383176 n5:4540344 n5:9177981 n5:9185283 n5:3950131
n4:druhVysledku
n7:J
n4:duvernostUdaju
n9:S
n4:entitaPredkladatele
n14:predkladatel
n4:idSjednocenehoVysledku
127436
n4:idVysledku
RIV/00064165:_____/12:12313
n4:jazykVysledku
n20:eng
n4:klicovaSlova
S-adenosylhomocysteine hydrolase; S-adenosylhomocysteine; S-adenosylmethionine; Phosphomannomutase 2; Congenital disorders of glycosylation
n4:klicoveSlovo
n11:Congenital%20disorders%20of%20glycosylation n11:S-adenosylhomocysteine%20hydrolase n11:S-adenosylmethionine n11:Phosphomannomutase%202 n11:S-adenosylhomocysteine
n4:kodStatuVydavatele
US - Spojené státy americké
n4:kontrolniKodProRIV
[39562E7E7767]
n4:nazevZdroje
Molecular Genetics and Metabolism
n4:obor
n18:FG
n4:pocetDomacichTvurcuVysledku
11
n4:pocetTvurcuVysledku
15
n4:projekt
n13:NT12166
n4:rokUplatneniVysledku
n19:2012
n4:svazekPeriodika
107
n4:tvurceVysledku
Ješina, Pavel Krijt, Jakub Elleder, Milan Kožich, Viktor Bauerová, Lenka Belužič, Robert Veselá, Kateřina Magner, Martin Hansíková, Hana Vugrek, Oliver Zeman, Jiří Sokolová, Jitka Ondrušková, Nina Barič, Ivo Honzík, Tomáš
n4:wos
000310720200054
n4:zamer
n17:MZ0VFN2005
s:issn
1096-7192
s:numberOfPages
3