Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

http://mc.manuscriptcentral.com/childneurology

Click here to sign up for SAGE Journal Email Alerts today!
Journal of Child Neurology
This Article
Right arrow Full Text (PDF)
Right arrow References
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Okuyaz, C.
Right arrow Articles by Y{iota}lgör, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Okuyaz, C.
Right arrow Articles by Y{iota}lgör, E.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

Severe Infantile Hypotonia With Ethylmalonic Aciduria: Case Report

Çetin Okuyaz, MD

Department of Pediatrics, Division of the Pediatric Neurology, Mersin University Medical Faculty, Mersin, okuyazc{at}mersin.edu.tr

Fatih Süheyl Ezgü, MD

Department of Pediatrics, Division of Metabolism, Gazi University Medical Faculty, Ankara Turkey

Gürsel Biberoglu, MD

Department of Pediatrics, Division of Metabolism, Gazi University Medical Faculty, Ankara Turkey

Massimo Zeviani, MD, PhD

Unit of Molecular Neurogenetics, National Neurological Institute "Carlo Besta," Milan, Italy

Valeria Tiranti, PhD

Unit of Molecular Neurogenetics, National Neurological Institute "Carlo Besta," Milan, Italy

Esat Y{iota}lgör, MD

Department of Pediatrics, Division of the Pediatric Neurology, Mersin University Medical Faculty, Mersin

An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant short-chain acyl-coenzyme A dehydrogenase gene polymorphism. With the clinical, biochemical and molecular findings, short-chain acyl-coenzyme A dehydrogenase deficiency was suspected. Because 625G>A and 511C>T (C-to-T substitution at nucleotide 511) genetic variations are also present in 14% of the general population, these are considered to be genetic sensitivity variations rather than causing a disease themselves and to result in possible short-chain acyl-coenzyme A dehydrogenase deficiency in the presence of environmental factors such as fever and hunger as well as cellular, biochemical, and other genetic factors. It was stressed that severe infantile hypotonia could also be the only manifestation of ethylmalonic aciduria spectrum disorders.

Key Words: hypotonia • ethylmalonic aciduria • short-chain acyl-coenzyme A dehydrogenase deficiency

Journal of Child Neurology, Vol. 23, No. 6, 703-705 (2008)
DOI: 10.1177/0883073807313048
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?