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GENATLAS PHENOTYPE

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

Remark(s)