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GENATLAS PHENOTYPE
last update : 07-04-2020
Symbol DMGDHD
Location 5q14.1
Name dimethylglycine dehydrogenase deficiency
Corresponding gene DMGDH
Main clinical features
  • dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name dimethylglycine dehydrogenase precursor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function H109R
    Remark(s)