Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for FREE ACCESS to this landmark database

Click here to sign up for SAGE Journal Email Alerts today!

Sign In to gain access to subscriptions and/or personal tools.
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
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
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 Muñoz Jareño, N.
Right arrow Articles by Campos-Castelló, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Muñoz Jareño, N.
Right arrow Articles by Campos-Castelló, J.
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

3-Methylglutaconic Aciduria Type 4 Manifesting as Leigh Syndrome in 2 Siblings

Nuria Muñoz Jareño, MD

Servicio de Neuropediatría, Hospital Clínico San Carlos, Madrid, Spain

Daniel Martín Fernández-Mayoralas, MD

Servicio de Neuropediatría, Hospital Clínico San Carlos, Madrid, Spain, dmfmayor{at}yahoo.es

Celia Pérez-Cerdá Silvestre, PhD

Begoña Merinero Cortés, PhD

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Spain

Magdalena Ugarte Pérez, PhD

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Cantoblanco, Spain

Jaime Campos-Castelló, MD

Servicio de Neuropediatría, Hospital Clínico San Carlos, Madrid, Spain

The authors report the case of a pair of siblings with 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome. Disease progression was monitored from birth until the present. Both patients fulfilled the diagnostic criteria for Leigh syndrome along with increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid (biochemical markers of methylglutaric acid) in several determinations. No mitochondrial respiratory chain defects in muscle biopsy were detected. Although mitochondrial abnormalities are the most common known cause of Leigh syndrome, there have been several reports of links with nonmitochondrial metabolic disorders. Descriptions of 3-methylglutaric acid type 4 associated with Leigh syndrome are rare.

Key Words: 3-methylglutaconic aciduria • Leigh syndrome • mitochondria • organic acid

Journal of Child Neurology, Vol. 22, No. 2, 218-221 (2007)
DOI: 10.1177/0883073807300300
Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?