Unsuccessful intravenous D-mannose treatment in PMM2-CDG
نویسندگان
چکیده
منابع مشابه
A Clinical Case with Pmm2-cdg and Dandy-walker Malformation
M. Stancheva1, I. Kremenski2, M. Apostolova3 , J. Jaeken4, E. van Schaftingen5, G. Matthijs6, N. Ivanova3, V. Bojinova7, B. Radeva8, P. Perenovska1, K. Vladimirova2, R. Vajarova2 and D. Todorova7 1Department of Pediatrics, University Children`s Hospital “ Alexandrovska”, So a, Bulgaria 2National Genetic Laboratory, So a, Bulgaria 3Bulgarian Academy of Science, Laboratory for Medico-biological R...
متن کاملPhosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
BACKGROUND Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require...
متن کاملChild Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements.
Rohini Coorg, MD Timothy E. Lotze, MD Congenital disorders of glycosylation encompass a group of diseases resulting from abnormal protein glycosylation. This group includes more than 20 described diseases.1 PMM2-CDG, previously referred to as congenital disorder of glycosylation type 1a (CDG 1a), is the most common of the congenital disorders of glycosylation. PMM2-CDG is associated with autoso...
متن کاملA Zebrafish Model Of PMM2-CDG Reveals Altered Neurogenesis And A Substrate-Accumulation Mechanism For N-Linked Glycosylation Deficiency Revised
Congenital Disorder of Glycosylation PMM2-CDG results from mutations in PMM2, which encodes the phosphomannomutase that converts mannose-6-P to mannose-1-P. Patients have wide-spectrum clinical abnormalities associated with impaired protein N-glycosylation. Though widely proposed that PMM2 deficiency depletes mannose-1-P, a precursor of GDP-mannose, and consequently suppresses lipid-linked olig...
متن کاملThe Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
Congenital disorder of glycosylation type Ia (PMM2-CDG), the most common form of CDG, is caused by mutations in the PMM2 gene that reduce phosphomannomutase 2 (PMM2) activity. No curative treatment is available. The present work describes the functional analysis of nine human PMM2 mutant proteins frequently found in PMM2-CDG patients and also two murine Pmm2 mutations carried by the unique PMM2...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2019
ISSN: 1750-1172
DOI: 10.1186/s13023-019-1213-3