Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10283197" target="_blank" >RIV/00216208:11110/14:10283197 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/14:10283197

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient

Popis výsledku v původním jazyce

OBJECTIVES: A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypoglycemia, hyperuricemia, short stature, obesity, hypothyroidism, microcephaly and mild intellectual disability. The multi-systemic manifestation involving certain distinct clinical features prompted us to search for a subtype of congenital disorders of glycosylation (CDG). METHODS: The patient was screened for CDG by examining the distribution of transferrin (TRF) andapolipoprotein C-III (ApoC-III) sialylated isoforms using isoelectric focusing of serum. This was followed by spectrophotometric measurement of phosphoglucomutase 1 (PGM1) activity in fibroblasts and molecular analysis including sequencing and PCR-RFLP of PGM1 gene. Selected bioinformatics tools were used to evaluate the data. RESULTS: Increased relative levels of di-, mono-and asialotransferrin reflected a defect of N-glycosylation in the patient. Markedly decreased activity of PGM1 cor

Název v anglickém jazyce

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient

Popis výsledku anglicky

OBJECTIVES: A 10-year-old boy presented with cleft palate, hepatopathy, cholecystolithiasis, myopathy, coagulopathy, hyperlipidemia, hypoglycemia, hyperuricemia, short stature, obesity, hypothyroidism, microcephaly and mild intellectual disability. The multi-systemic manifestation involving certain distinct clinical features prompted us to search for a subtype of congenital disorders of glycosylation (CDG). METHODS: The patient was screened for CDG by examining the distribution of transferrin (TRF) andapolipoprotein C-III (ApoC-III) sialylated isoforms using isoelectric focusing of serum. This was followed by spectrophotometric measurement of phosphoglucomutase 1 (PGM1) activity in fibroblasts and molecular analysis including sequencing and PCR-RFLP of PGM1 gene. Selected bioinformatics tools were used to evaluate the data. RESULTS: Increased relative levels of di-, mono-and asialotransferrin reflected a defect of N-glycosylation in the patient. Markedly decreased activity of PGM1 cor

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/NT12166" target="_blank" >NT12166: Studium podstaty dědičných poruch glykosylace</a><br>

Návaznosti

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Neuroendocrinology Letters

ISSN

0172-780X

e-ISSN

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Svazek periodika

35

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

SE - Švédské království

Počet stran výsledku

5

Strana od-do

137-141

Kód UT WoS článku

000340153900009

EID výsledku v databázi Scopus

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