Malonic aciduria

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

Myoclonus

Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.


Total: 1

                      


(per page)
PMID (PMCID)
26167218
(4489058)
OTHER
Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria.
Murgai A, Deshmukh A, Puri V, Chaudhry N, Kapoor S.
J Pediatr Neurosci. 2015;10(2):140-2.
A, 11-year-old male, with delayed milestones after the age of 6 months with recurrent myoclonus and generalized tonic-clonic seizures had clinical worsening after institution of valproate, was detected to have elevated serum lactate level and marked methyl malonic aciduria.