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

Result code in 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>

Alternative codes found

RIV/00064165:_____/14:10283197

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

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

Original language description

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

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NT12166" target="_blank" >NT12166: The study of the bases of congenital disorders of glycosylation</a><br>

Continuities

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

Publication year

2014

Confidentiality

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

Name of the periodical

Neuroendocrinology Letters

ISSN

0172-780X

e-ISSN

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Volume of the periodical

35

Issue of the periodical within the volume

2

Country of publishing house

SE - SWEDEN

Number of pages

5

Pages from-to

137-141

UT code for WoS article

000340153900009

EID of the result in the Scopus database

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