3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
MEGDEL

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Prevalence (%) of clinical parameters based on data from 1 references describing 15 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Psychomotor retardation nervous 100 % 22683713 2013-11-14
Spasticity nervous 100 % 22683713 2013-11-14
Dystonia nervous 100 % 22683713 2013-11-14
Hearing loss nervous 100 % 22683713 2013-11-14
Developmental delay nervous 100 % 22683713 2013-11-14
Cerebellar atrophy nervous 100 % 22683713 2013-11-14
Cerebral atrophy nervous 100 % 22683713 2013-11-14
Basal ganglia pathology nervous 100 % 22683713 2013-11-14
3-methylglutaconic aciduria urinary 100 % 22683713 2013-11-14
Lactate accumulation circulatory 93 % 22683713 2013-11-14
Increased serum alanine circulatory 62 % 22683713 2013-11-14



List of references:


Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Saskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, Lisenka E L M Vissers, G Herma Renkema, Janneke H M Schuurs-Hoeijmakers, Wim Kulik, Martin Lammens, Christin Christin, Leo A J Kluijtmans, Richard J Rodenburg, Leo G J Nijtmans, Anne Grünewald, Christine Klein, Joachim M Gerhold, Tamas Kozicz, Peter M van Hasselt, Magdalena Harakalova, Wigard Kloosterman, Ivo Barić, Ewa Pronicka, Sema Kalkan Ucar, Karin Naess, Kapil K Singhal, Zita Krumina, Christian Gilissen, Hans van Bokhoven, Joris A Veltman, Jan A M Smeitink, Dirk J Lefeber, Johannes N Spelbrink, Ron A Wevers, Eva Morava, Arjan P M de Brouwer,



Nature genetics - Jun 2012