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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 11 MTDPS11
615084
OMIM = Online Medalian Inheritance of Men
352447
20p11.23
rare
autosomal recessive
mutation in the MGME1 gene
symptoms
ataxia
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, dilated
cerebellar atrophy or hypoplasia
diarrhea
dyspnea
emaciation
exercise intolerance
hypogonadism
hyporeflexia
infections (severe or recurrent)
mental retardation
microcephaly (<2 SD for age)
muscle atrophy
muscle weakness
nausea
onset, adolescent
onset, childhood
ophthalmoplegia
ptosis (drooping eyelid)
respiratory insufficiency
speech development, delayed, abnormal
laboratory finding
Creatine kinase U/lserum
Literature
Bandaralage SP,et al.Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic reviewPediatr Radiol463357-3642016
Sands MSMucopolysaccharidosis type VII: A powerful experimental system and therapeutic challengePediatr Endocrinol Rev Suppl10159-1652014
Vairo F,et al.Diagnostic and treatment strategies in mucopolysaccharidosis VIAppl Clin Genet80245-2552015
Tomatsu S,et al.Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)Hum Mutat304511-5192009
Huang YL,et al.Mucopolysaccharidosis VII: report of a case and review of the literature.Zhonghua Er Ke Za Zhi496455-4582011
Valayannopoulos V,et al.Mucopolysaccharidosis VIOrphanet J Rare Dis5052010