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Your search keyword '"Malonyl-CoA decarboxylase deficiency"' showing total 2 results
Start Over Descriptor "Malonyl-CoA decarboxylase deficiency" Journal journal of inherited metabolic disease
2 results on '"Malonyl-CoA decarboxylase deficiency"'

1. Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease

Author

Willy Lehnert, Udo Wendel, Hans-Dieter Oldigs, René Santer, Michael B. Krawinkel, and Jürgen Schaub

Subjects
chemistry.chemical_classification, Male, medicine.medical_specialty, Heterozygote, Carboxy-lyases, Anemia, Carboxy-Lyases, Infant, Heterozygote advantage, Malonyl-CoA decarboxylase, Biology, medicine.disease, Hemoglobin C Disease, Hemoglobin C, Enzyme, Endocrinology, chemistry, Internal medicine, Genetics, Malonyl-CoA decarboxylase deficiency, medicine, Humans, Haemoglobin C disease, Genetics (clinical)
Published
1994

2. Malonyl coenzyme A decarboxylase deficiency

Author

A. Bankier, R. D. Scholem, Garry Brown, and David M. Danks

Subjects
Male, medicine.medical_specialty, Carboxy-Lyases, Methylmalonic acid, Mitochondrion, Biology, Excretion, chemistry.chemical_compound, Internal medicine, Genetics, Malonyl-CoA decarboxylase deficiency, medicine, Humans, Genetics (clinical), chemistry.chemical_classification, Methylmalonyl-CoA Mutase, Lipid metabolism, Malonyl-CoA decarboxylase, Fibroblasts, medicine.disease, Malonates, Mitochondria, Malonyl Coenzyme A, Endocrinology, Enzyme, chemistry, Inborn error of metabolism, Child, Preschool, Acyl Coenzyme A, Fatty Acid Synthases, Metabolism, Inborn Errors, Methylmalonic Acid
Abstract

A patient is described with a deficiency of the mitochondrial enzyme, malonyl CoA decarboxylase — an inborn error of metabolism not recognized previously. The enzyme defect was first suspected because of persistent excretion of malonic and methylmalonic acids in urine in a child with repeated episodes of vomiting, some requiring hospitalization. Disturbances of lipid metabolism were demonstrated.

Published
1984

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