Malonyl coenzyme A decarboxylase deficiency.
نویسندگان
چکیده
منابع مشابه
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
Malonyl coenzyme A (CoA) decarboxylase (MCD) deficiency is a rare autosomal recessive organic acidemia characterized by varying degrees of organ involvement and severity. MCD regulates fatty acid biosynthesis and converts malonyl-CoA to acetyl-CoA. Cardiomyopathy is 1 of the leading causes of morbidity and mortality in this disorder. It is unknown if diet alone prevents cardiomyopathy developme...
متن کاملMalonyl coenzyme A synthetase. Purification and properties.
Malonyl coenzyme A synthetase (EC 6.2.1.14) was induced in Pseudomonas fluorescens grown on malonate as a sole carbon source. This enzyme was purified, for the first time, over 30-fold by the combination of ammonium sulfate precipitation, Sephadex G-150 gel filtration, DEAE-Sephacel ion exchange chromatography, and hydroxylapatite chromatography. The purified enzyme, which had a specific activi...
متن کاملTandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.
References 1. Ramsay DS, Lewis M. The effects of birth condition on infants’ cortisol response to stress. Pediatrics 1995;95:546–9. 2. Flinn MV, England BG. Social economics of childhood glucocorticoid stress response and health. Am J Phys Anthropol 1997;102:33–53. 3. Antonini SRR, Jorge SM, Moreira AC. The emergence of salivary cortisol circadian rhythm and its relationship to sleep activity i...
متن کاملAbsence of malonyl coenzyme A decarboxylase in mice increases cardiac glucose oxidation and protects the heart from ischemic injury.
BACKGROUND Acute pharmacological inhibition of cardiac malonyl coenzyme A decarboxylase (MCD) protects the heart from ischemic damage by inhibiting fatty acid oxidation and stimulating glucose oxidation. However, it is unknown whether chronic inhibition of MCD results in altered cardiac function, energy metabolism, or ischemic cardioprotection. METHODS AND RESULTS Mcd-deficient mice were prod...
متن کاملCrystal Structures of Malonyl-Coenzyme A Decarboxylase Provide Insights into Its Catalytic Mechanism and Disease-Causing Mutations
Malonyl-coenzyme A decarboxylase (MCD) is found from bacteria to humans, has important roles in regulating fatty acid metabolism and food intake, and is an attractive target for drug discovery. We report here four crystal structures of MCD from human, Rhodopseudomonas palustris, Agrobacterium vitis, and Cupriavidus metallidurans at up to 2.3 Å resolution. The MCD monomer contains an N-terminal ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1993
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.69.4.433