Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
(2006) In Molecular Genetics and Metabolism 88(1). p.47-52- Abstract
In this paper, we describe a distinct clinical subtype of 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria is a group of different metabolic disorders biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. We performed biochemical and genetic investigations, including urine organic acid analysis, NMR spectroscopy, measurement of 3-methylglutaconyl-CoA hydratase activity, cardiolipin levels, OPA3 gene analysis and measurement of the oxidative phosphorylation in four female patients with 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria type I, Barth syndrome, and Costeff syndrome were excluded as the activity of 3-methylglutaconyl-CoA hydratase, the cardiolipin levels, and molecular analysis... (More)
In this paper, we describe a distinct clinical subtype of 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria is a group of different metabolic disorders biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. We performed biochemical and genetic investigations, including urine organic acid analysis, NMR spectroscopy, measurement of 3-methylglutaconyl-CoA hydratase activity, cardiolipin levels, OPA3 gene analysis and measurement of the oxidative phosphorylation in four female patients with 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria type I, Barth syndrome, and Costeff syndrome were excluded as the activity of 3-methylglutaconyl-CoA hydratase, the cardiolipin levels, and molecular analysis of the OPA3 gene, respectively, showed no abnormalities. The children presented with characteristic association of hearing loss and the neuro-radiological evidence of Leigh disease. They also had neonatal hypotonia, recurrent lactic acidemia, episodes with hypoglycemia and severe recurrent infections, feeding difficulties, failure to thrive, developmental delay, and progressive spasticity with extrapyramidal symptoms. Our patients were further biochemically characterized by a mitochondrial dysfunction and persistent urinary excretion of 3-methylglutaconic acid.
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- author
- Wortmann, S. ; Rodenburg, R. J.T. ; Huizing, M. ; Loupatty, F. J. ; de Koning, T. LU ; Kluijtmans, L. A.J. ; Engelke, U. ; Wevers, R. ; Smeitink, J. A.M. and Morava, E.
- publishing date
- 2006-05-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- 3MGA, Extrapyramidal, Hypoglycemia, Lactic acidemia, Leigh-like syndrome, Mitochondrial, Sensori-neural deafness
- in
- Molecular Genetics and Metabolism
- volume
- 88
- issue
- 1
- pages
- 6 pages
- publisher
- Elsevier
- external identifiers
-
- scopus:33646024913
- pmid:16527507
- ISSN
- 1096-7192
- DOI
- 10.1016/j.ymgme.2006.01.013
- language
- English
- LU publication?
- no
- id
- b8d35f47-8a30-476b-bee0-ceebd83b6435
- date added to LUP
- 2020-03-03 19:03:55
- date last changed
- 2024-04-03 02:16:20
@article{b8d35f47-8a30-476b-bee0-ceebd83b6435,
abstract = {{<p>In this paper, we describe a distinct clinical subtype of 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria is a group of different metabolic disorders biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. We performed biochemical and genetic investigations, including urine organic acid analysis, NMR spectroscopy, measurement of 3-methylglutaconyl-CoA hydratase activity, cardiolipin levels, OPA3 gene analysis and measurement of the oxidative phosphorylation in four female patients with 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria type I, Barth syndrome, and Costeff syndrome were excluded as the activity of 3-methylglutaconyl-CoA hydratase, the cardiolipin levels, and molecular analysis of the OPA3 gene, respectively, showed no abnormalities. The children presented with characteristic association of hearing loss and the neuro-radiological evidence of Leigh disease. They also had neonatal hypotonia, recurrent lactic acidemia, episodes with hypoglycemia and severe recurrent infections, feeding difficulties, failure to thrive, developmental delay, and progressive spasticity with extrapyramidal symptoms. Our patients were further biochemically characterized by a mitochondrial dysfunction and persistent urinary excretion of 3-methylglutaconic acid.</p>}},
author = {{Wortmann, S. and Rodenburg, R. J.T. and Huizing, M. and Loupatty, F. J. and de Koning, T. and Kluijtmans, L. A.J. and Engelke, U. and Wevers, R. and Smeitink, J. A.M. and Morava, E.}},
issn = {{1096-7192}},
keywords = {{3MGA; Extrapyramidal; Hypoglycemia; Lactic acidemia; Leigh-like syndrome; Mitochondrial; Sensori-neural deafness}},
language = {{eng}},
month = {{05}},
number = {{1}},
pages = {{47--52}},
publisher = {{Elsevier}},
series = {{Molecular Genetics and Metabolism}},
title = {{Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation}},
url = {{http://dx.doi.org/10.1016/j.ymgme.2006.01.013}},
doi = {{10.1016/j.ymgme.2006.01.013}},
volume = {{88}},
year = {{2006}},
}