title: Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.
abstract: Malonyl-CoA decarboxylase (MCD) deficiency is an extremely rare inborn error of metabolism that presents with metabolic acidosis, hypoglycemia, and/or cardiomyopathy. Patients also show neurological signs and symptoms that have been infrequently reported. We describe a girl with MCD deficiency, whose brain MRI shows white matter abnormalities and additionally diffuse pachygyria and periventricular heterotopia, consistent with a malformation of cortical development. MLYCD-gene sequence analysis shows normal genomic sequence but no messenger product, suggesting an abnormality of transcription regulation. Our patient has strikingly low appetite, which is interesting in the light of the proposed role of malonyl-CoA in the regulation of feeding control, but this remains to be confirmed in other patients. Considering the incomplete understanding of the role of metabolic pathways in brain development, patients with MCD deficiency should be evaluated with brain MRI and unexplained malformations of cortical development should be reason for metabolic screening.
authors.affiliation: Department of Child Neurology, Erasmus Medical Center, Rotterdam, The Netherlands. m.c.y.dewit@erasmusmc.nl
authors.forename: M C Y
authors.initials: MC
authors.lastname: de Wit
authors.forename: I F M
authors.initials: IF
authors.lastname: de Coo
authors.forename: E
authors.initials: E
authors.lastname: Verbeek
authors.forename: R
authors.initials: R
authors.lastname: Schot
authors.forename: G C
authors.initials: GC
authors.lastname: Schoonderwoerd
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: J B C
authors.initials: JB
authors.lastname: de Klerk
authors.forename: J G M
authors.initials: JG
authors.lastname: Huijmans
authors.forename: M H
authors.initials: MH
authors.lastname: Lequin
authors.forename: F W
authors.initials: FW
authors.lastname: Verheijen
authors.forename: G M S
authors.initials: GM
authors.lastname: Mancini
mesh_terms: D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities*; D001928:Brain Diseases, Metabolic / Q000201:enzymology / Q000235:genetics*; D001933:Brain Stem / Q000002:abnormalities; D002262:Carboxy-Lyases / Q000172:deficiency* / Q000235:genetics; D002478:Cells, Cultured; D002531:Cerebellum / Q000002:abnormalities; D002540:Cerebral Cortex / Q000002:abnormalities; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004435:Eating / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D012867:Skin / Q000166:cytology / Q000201:enzymology
chemical_list: D002262:Carboxy-Lyases; C021532:malonyl-CoA decarboxylase