Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.3.3.1 (citrate synthase)
 4,488 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitochondria were isolated from liver, heart and skeletal muscle of a 34-day-old female infant who died from a myopathic illness. Muscle biopsy showed lipid accumulation and no obvious pathology in any other organ. Enzymatic analysis of skeletal muscle extracts revealed normal activities of the markers pyruvate dehydrogenase and citrate synthase. Malonyl-CoA-sensitive carnitine palmitoyltransferase (CPT1) was detected but malonyl-CoA-insensitive carnitine palmitoyltransferase (CPT2) appeared to be absent. Quantitative immunoblotting revealed the presence of a normal abundance of CPT2 protein in the patient's muscle. It is concluded that enzymically inactive CPT2 protein was present.
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PMID:Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy. 776 92

Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exercise-induced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease-causing mutations in the CPT2 gene with residual CPT activity in muscle. We present evidence that the ratio of CPT II activity to citrate synthase activity in the skeletal muscle of patients presumed to have CPT II deficiency is important for predicting whether the patient has one, two, or no mutations in the CPT2 gene. This finding will assist in the future correlation of the phenotype with the genotype and in identifying manifesting heterozygotes.
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PMID:Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency. 1039 18