Two patients with a MDH1 deficiency have been reported so far. Both individuals presented with global developmental delay, progressive microcephaly, epileptic encephalopathy, axial hypotonia and hypertonia of the extremities with hyperactive reflexes.
Moreover facial dysmorphism like bulbous nose, deep-set eyes, frontal bossing, micrognathia and strabismus are also observed.
Biochemically, dried blood spots showed increased glutamate and glycerol-3-p levels.
MDH1