Pregled bibliografske jedinice broj: 589909
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency // Molecular genetics and metabolism, 107 (2012), 3; 611-613 doi:10.1016/j.ymgme.2012.08.014 (međunarodna recenzija, članak, znanstveni)
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Naslov
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
Autori
Honzik, Tomas ; Magner, Martin ; Krijt, Jakub ; Sokolova, Jitka ; Vugrek, Oliver ; Belužić, Robert ; Barić, Ivo ; Hansikova, Hana ; Elleder, Milan ; Vesela, Katerina ; Bauerova, Lenka ; Ondruskova, Nina ; Jesina, Pavel ; Zeman, Jiri ; Kozich, Viktor
Izvornik
Molecular genetics and metabolism (1096-7192) 107
(2012), 3;
611-613
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
S-adenosylhomocysteine hydrolase; S-adenosylhomocysteine; S-adenosylmethionine; phosphomannomutase 2; congenital disorders of glycosylation
Sažetak
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.
Izvorni jezik
Engleski
POVEZANOST RADA
Projekti:
098-0000000-2463 - Nedostatak Adenozilhomocistein hidrolaze: Molekularni mehanizmi novog oboljenja (Vugrek, Oliver, MZOS ) ( CroRIS)
IPA2007/HR/16IPO/001- 040305
108-10818701885
Ustanove:
Institut "Ruđer Bošković", Zagreb
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE