Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency

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, whos...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2006-02, Vol.87 (2), p.102-106
Main Authors: de Wit, M.C.Y., de Coo, I.F.M., Verbeek, E., Schot, R., Schoonderwoerd, G.C., Duran, M., de Klerk, J.B.C., Huijmans, J.G.M., Lequin, M.H., Verheijen, F.W., Mancini, G.M.S.
Format: Article
Language:English
Subjects:
Agenesis of Corpus Callosum
Brain - abnormalities
Brain Diseases, Metabolic - enzymology
Brain Diseases, Metabolic - genetics
Brain Stem - abnormalities
Carboxy-Lyases - deficiency
Carboxy-Lyases - genetics
Cells, Cultured
Cerebellum - abnormalities
Cerebral Cortex - abnormalities
Child, Preschool
DNA Mutational Analysis
Eating - genetics
Female
Fibroblasts - enzymology
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Malformation of cortical development
Malonyl-CoA decarboxylase deficiency
Middle Aged
MLYCD
Neuronal migration
Skin - cytology
Skin - enzymology
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Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2005.09.009