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GENATLAS PHENOTYPE
last update : 16-05-2018
Symbol MMDFS
Location 2p13.3
Name multiple mitochondrial dysfunctions syndrome 1
Corresponding gene NFU1
Other symbol(s) MMDS1
Main clinical features
  • feeding difficulties, weakness, lethargy and decreasing responsiveness within a few days after both associated to lactid acidosis, hyperglycinemia defect of multiple mitochondrial functions; first symptoms started at age 1–9 months, and all the individuals died on or before the age of 15 months
  • blood revealed high levels of glycine, leucine, valine, and isoleucine, indicating abnormalities of the glycine-cleavage system and of the branched-chain alpha-keto acid dehydrogenase, and a significant reduction in activity of mitochondrial respiratory chain complexes
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Remark(s)