A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

Brain Dev. 2013 Aug;35(7):675-80. doi: 10.1016/j.braindev.2012.10.014. Epub 2012 Nov 22.


Malonyl-CoA decarboxylase deficiency (MLYCD) is a rare autosomal recessive inborn error of metabolism presenting a variable clinical phenotype. We report an affected Italian male receiving an early diagnosis (8days after birth) and a timely dietary therapy (high carbohydrate, low long chain fatty acid and medium chain triglyceride supplemented diet with l-carnitine supplementation). The boy was born at term and presented normal function of the heart (except for a tricuspid Ebstein-like dysplasia) and neurodevelopmental status. Genomic sequencing of MLYCD gene revealed two point mutations (c.672G>A, c.869C>T) not listed in the Human MLYCD Allelic Variant Database nor in Human Gene Mutation Database, responsible for a deleterious effect on protein structure and function according to a computational analysis (MuPro, SIFT, ConSEQ v1.1). At the age of 2years he only showed a mild language and psychomotor delay, while heart functioning became normal. Brain MRI examination was normal. Thirty-five cases, including our patient, have been described to date. This is the first report concerning a malonic aciduria patient diagnosed on newborn screening and treated in a presymptomatic stage of the disease.

Publication types

  • Case Reports

MeSH terms

  • Carboxy-Lyases / deficiency*
  • Carboxy-Lyases / genetics
  • Child, Preschool
  • Early Diagnosis*
  • Humans
  • Infant, Newborn
  • Male
  • Malonyl Coenzyme A / genetics
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / diet therapy*
  • Metabolism, Inborn Errors / genetics
  • Methylmalonic Acid
  • Mutation
  • Neonatal Screening


  • Malonyl Coenzyme A
  • Methylmalonic Acid
  • Carboxy-Lyases
  • malonyl-CoA decarboxylase

Supplementary concepts

  • Malonic aciduria