Abstract | PURPOSE OF REVIEW:
Inborn errors of metabolism are increasingly recognized as underlying causes in pediatric diseases. Selenium and selenoproteins have only recently been identified as causes of inherited defects. Respective case reports have broadened our understanding of selenoprotein function and their developmental importance. This review presents the characterized defects and tries to attract attention to the spectrum of potential phenotypes. RECENT FINDINGS: SUMMARY: The spectrum of diseases related to inborn defects of selenium utilization, transport, and metabolism is expanding. However, only few examples are already known, resulting from defects in one selenoprotein gene and two genes involved in selenoprotein biosynthesis, respectively. Complex syndromes with impaired muscle function, stunted growth, neurosensory and/or immune defects may point to the involvement of impaired selenium metabolism and selenoprotein function, necessitating specific diagnostic procedures.
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Authors | Ulrich Schweizer, Nora Dehina, Lutz Schomburg |
Journal | Current opinion in pediatrics
(Curr Opin Pediatr)
Vol. 23
Issue 4
Pg. 429-35
(Aug 2011)
ISSN: 1531-698X [Electronic] United States |
PMID | 21670677
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
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Chemical References |
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Topics |
- Humans
- Metabolism, Inborn Errors
(diagnosis, genetics, metabolism)
- Muscle, Skeletal
(metabolism)
- Selenium
(metabolism)
- Selenoproteins
(biosynthesis, genetics, metabolism, physiology)
- Thyroid Gland
(metabolism)
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