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Summary
3-METHYLGLUTACONIC ACIDURIA, TYPE VI MGCA6 (MEGDEL)
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME MEGDEL
614739
OMIM = Online Medalian Inheritance of Men
352358
6q25.3
very rare
autosomal recessive
mutation in the SERAC1 gene
symptoms
cerebellar atrophy or hypoplasia
dystonia
encephalopathy
extrapyramidal signs
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
hypertonia, spasticity
hypotonia
infections (severe or recurrent)
intellectual disability/intellectual developmental disorder (ID/ IDD)
mental retardation
microcephaly (<2 SD for age)
motor retardation
myoclonus
onset, childhood
onset, infancy
optic atrophy
seizures
laboratory finding
Transaminases0.000.00 normal-increasedplasmaall
Ammonia0.000.00 normal-increasedbloodall
D-Glucose0.000.00 normal-decreasedplasmaall
L-Lactic acid0.000.00 normal-increasedplasmaall
L-Lactic acid0.000.00 normal-increasedcerebrospinal fluidall
alpha-Fetoprotein0.000.00 increasedserumall
3-Methylglutaconic acid increasedurine
3-Hydroxyisovaleric acid increasedurine
Literature
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Fugazzola Let al.Molecular analysis of the Pendreds syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendreds syndromeJ Clin Endocrinol Metab8502469-24752000
Remes AMet al.Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish populationNeurology646976-9812005
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Millichap JGPrognosis of Cyclic Vomiting SyndromePediatr Neurol Briefs30162016
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El-Kabbani Oet al.Crystal structure of human L-xylulose reductase holoenzyme: probing the role of Asn107 with site-directed mutagenesisProteins550724-7322004
Aubourg P,Wanders RPeroxisomal disordersHandb Clin NeurolHandb Clin Neurol11301593-16092013
Jacobs LJet al.Pearson syndrome and the role of deletion dimers and duplications in the mtDNAJ Inherit Metab Dis27147-552004
Pryor SPet al.SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entitiesJ Med Genet422159-1652005
Napiontek Uet al.Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 geneJ Clin Endocrinol Metab8905347-53512004
Krauch Get al.Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNAAm J Med Genet110157-612002