geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency


, : Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. Molecular Genetics and Metabolism 87(2): 102-106

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. (C) 2005 Elsevier Inc. All rights reserved.

US$19.90

PMID: 16275149

DOI: 10.1016/j.ymgme.2005.09.009


Other references

Saari, E.E.; Young, H.C., J.; Kernkamp, M.F., 1968: Infection of North American Thalictrum spp. with Puccinia recondita L sp. tritici. The severity of infection on North American species was much lower than on European species. Mass matings of pycnidiospores from American species produced a low percentage of ecidia, the ecidiospores being avirulent on the wheat Cheyenne. Twenty-t...

Ohkura, S.; Kondoh, N.; Hada, A.; Arai, M.; Yamazaki, Y.; Sindoh, M.; Takahashi, M.; Matsumoto, I.; Yamamoto, M., 2005: Differential expression of the keratin-4, -13, -14, -17 and transglutaminase 3 genes during the development of oral squamous cell carcinoma from leukoplakia. To identify differentially expressed genes during the development of oral malignancy, differential display, northern blotting, reverse transcription-polymerase chain reaction (RT-PCR) and immunohistochemical analyses were undertaken using oral squ...

Scott, B.; Gregory, R.P.F., 1975: Properties of protein chlorophyll complexes from pea pisum sativum leaves. Biochemical Journal 149(2): 341-348

Leplaideur, F., 1976: Simple and totally automatic continuous flow technic for the determination of triglycerides in the blood. The author describes a simple and entirely automatic technique for the estimation of triglycerides in human serum which, in acetic medium, are extracted by a mixture of nonane-isopropanol and saponified. The glycerol is oxidised into formaldehyde...

Bergna, L.J., 1968: 1-step method to factor VIII dosage. Medicina 28: Suppl 1:17-9

L.M.ntia, L.; Eoli, M.; Salmaggi, A.; Milanese, C., 1996: Does a placebo-effect exist in clinical trials on multiple sclerosis? Review of the literature. To verify whether the outcome in placebo-treated MS patients actually corresponds to that expected on the basis of the natural history and pretrial evolution of the disease, we here review the results of clinical trials conducted according to a pl...

Hudec, Igor, 1997: Moina ephemeralis n.sp. from Central Europe. Moina ephemeralis n.sp. is described from South Slovakia. It belongs to the Moina gouldeni-lipini group. Together with Moina macrocopa (Straus, 1820) it is the second species with a 2-egged ephippium from Central Europe. The species was recorded i...

Motsay, G.J.; Alho, A.; Butler, B.; Perry, J.F.; Lillehei, R.C., 1972: Iliac vein trauma with pelvic fracture. Postgraduate Medicine 51(2): 133-136

Sullivan, B.David.; Dehlinger, D.A.; Zlatanovic, S.; Esener, S.A.; Heller, M.J., 2007: Low-frequency electrophoretic actuation of nanoscale optoentropic transduction mechanisms. Inherent bistabilities within DNA-assembled fluorescent resonant energy transfer systems demonstrated time-varying optical signals in response to an electrophoretic driving force. Frequency responses of electrophoretically driven FRET systems were...

Morgan, R.W.; Kheifets, L.; Obrinsky, D.L.; Whorton, M.D.; Foliart, D.E., 1984: Fetal loss and work in a waste water treatment plant. We investigated pregnancy outcomes in 101 wives of workers employed in a waste water treatment plant (WWTP), and verified fetal losses by hospital records. Paternal work histories were compiled and each of the 210 pregnancies was assigned a patern...