GPD1 Deficiency - Underdiagnosed Cause of Liver Disease

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10419894" target="_blank" >RIV/00216208:11110/21:10419894 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/21:00073670 RIV/00064165:_____/21:10419894 RIV/00216224:14110/21:00120631
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=LoPG5C33sK" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=LoPG5C33sK</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s12098-020-03385-x" target="_blank" >10.1007/s12098-020-03385-x</a>

Result language
angličtina
Original language name
GPD1 Deficiency - Underdiagnosed Cause of Liver Disease
Original language description
Deficiency of cytosolic glycerol-3-phosphate dehydrogenase (GPD1, EC 1.1.1.8) manifests in infancy with hepatomegaly, moderate to severe hypertriglyceridemia and cholestasis resulting in steatosis and fibrosis but the course of the disease seems to be non-progressive and relatively benign. Among 17 patients described so far, severe liver disease was found in one patient only. We report infantile hypertriglyceridemia/GPD1 deficiency (OMIM #614480) in nine Roma children and one boy of Palestinian Arab origin.
Czech name
—
Czech description
—

Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
10600 - Biological sciences

Project
<a href="/en/project/NV19-07-00136" target="_blank" >NV19-07-00136: Characterization of the molecular basis of rare genetic diseases of pediatric onset using new methods of genome analysis</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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