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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-12-2015
Symbol SAMD
Location 3p14.1
Name S-adenosylmethionine deficiency
Corresponding gene SLC25A26
Main clinical features
  • impaired SAM transport into mitochondria causes a complex syndrome causing multiple primary defects, including those affecting RNA stability, protein modification, mitochondrial translation, and the biosynthesis of CoQ10
  • early acute circulatory collapse and pulmonary hypertension, severe lactic acidosis, and elevated pyruvate level
  • activities of respiratory-chain enzymes were normal in fibroblasts but showed decreased activities of complexes I, III, and IV in skeletal muscle (PMID: 26522469))
  • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    Type disease