Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.3.99.3 (acyl-CoA dehydrogenase)
 1,425 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The organic anion transport system in the choroid plexus is responsible for excretion of organic anions from brain to plasma. Disruption of this system could then result in accumulation of encephalopathic acyl groups in brain in a variety of metabolic disorders. Octanoate produced inhibition of this transport system associated with disruption of mitochondrial ultrastructure. Octanoylcarnitine and L-carnitine had no effect. These compounds represent those seen in the medium chain acyl CoA dehydrogenase deficiency. L-Carnitine may be useful for protecting the central nervous system through formation of the non-toxic acylcarnitine in this and other metabolic disorders characterized by accumulation of encephalopathic metabolites.
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PMID:L-carnitine: therapeutic strategy for metabolic encephalopathy. 647 35

Patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency are unable to metabolize medium-chain fatty acids. Affected patients display a characteristic acylcarnitine profile when blood spots are collected after birth and analysed by tandem mass spectrometry. To determine the potential risk of metabolic decompensation in newborns with elevations of diagnostic metabolites (octanoylcarnitine>0.3, but <1 micromol/L), we investigated the relationship between octanoylcarnitine (C8) concentration in neonatal blood spots and the 985A>G MCAD genotype. Octanoylcarnitine values from 7140 newborns' blood spots were sorted. The highest C8 was approximately 0.7 micromol/L, which is below the range in classical MCAD deficiency. Samples with C8 levels above 0.25 micromol/L (group C) represented 1.4% of the total. Values between 0.05 and 0.25 micromol/L (group B) made up 87.8% of the total; 10.8% of the samples had C8 values less than 0.05 micromol/L (group A). One hundred samples from each group were selected at random and genomic DNA was amplified by PCR and analysed for the presence of the 985A>G mutation. The analysed samples from groups A and B were all homozygous normal. The 100 samples from group C contained 26 samples that were heterozygous for the 985A>G mutation. These findings indicated that the frequency distribution of heterozygotes is not random within this population. Group C was further divided into C1, the 26 heterozygotes, and C2, the remaining 74 newborns in group C. In group C1 only 2 (8%) were in the 'high-risk' group characterized by either low birth weight or requiring admission to the neonatal intensive care unit. In contrast, 28 (38%) from C2 had low birth weight or were in the neonatal intensive care unit. In our dataset, C8/C2 and C8/C12 ratios were also significantly elevated in both groups C1 and C2 compared to controls (group B). In contrast to what others have reported, the ratio of C8/C10 did not differentiate the group B controls from heterozygotes or other patients in metabolic distress (group C2), but were lower than those seen in classic MCAD or mild MCAD deficiency.
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PMID:Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype? 1497 Jul 48