4.2.a

Disorders of mitochondrial membrane biogenesis and remodeling

  • SERAC1 deficiency (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh- like syndrome – MEGDEL)
  • Tafazzin deficiency (Barth syndrome)
  • Phosphatidylserine decarboxylase deficiency
  • PNPLA4 deficiency
  • PNPLA8 deficiency (Mitochondrial myopathy with lactic acidosis)
  • MICOS complex subunit MIC13 deficiency
  • MICOS complex subunit MIC26 deficiency
  • CHCHD2 deficiency (Autosomal dominant Parkinson disease type 22)
  • CHCHD10 deficiency (Spinal muscular atrophy, Jokela type; frontotemporal dementia type 2)

Subnetworks

PM MD 1

PM-MD

Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism

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