The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.

Abstract

The multiple acyl-coenzyme A (CoA) dehydrogenation disorders (MAD) include severe (S) and mild (M) variants, glutaric aciduria type II (MAD:S) and ethylmalonic-adipic aciduria (MAD:M). Intact MAD:M mitochondria oxidized [1-14C]octanoate, [1-14C]palmityl-CoA, and [1,5-14C]glutarate at 20-46% of control levels; MAD:S mitochondria oxidized these three substrates at 0.4-18% of control levels. In MAD:M mitochondria, acyl-CoA dehydrogenase (ADH) activities were similar to control, whereas MAD:S ADH activities ranged from 38% to 73% of control. Electron transfer flavoprotein (ETF) activities in five MAD:M cell lines ranged from 29 to 51% of control (P less than 0.01); ETF deficiency was the primary enzymatic defect in two MAD:M lines. In four MAD:S patients, ETF activities ranged from 3% to 6% of control (P less than 0.001); flavin adenine dinucleotide addition increased residual ETF activity from 4% to 21% of control in a single MAD:S line (P less than 0.01). Three MAD:S patients had ETF activities ranging from 33 to 53% of control; other investigators found deficient ETF-dehydrogenase activity in these MAD:S and three of our MAD:M cell lines.

• Authors: B A Amendt, W J Rhead
• Journal: The Journal of clinical investigation (J Clin Invest) Vol. 78 Issue 1 Pg. 205-13 (Jul 1986) ISSN: 0021-9738 [Print] United States
• PMID: 3722376 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Acyl Coenzyme A
• Adipates
• Caprylates
• Electron-Transferring Flavoproteins
• Fatty Acids
• Flavoproteins
• Glutarates
• Malonates
• Succinates
• octanoyl-coenzyme A
• Flavin-Adenine Dinucleotide
• Palmitoyl Coenzyme A
• ethylmalonic acid
• adipic acid
• Succinic Acid
• Acyl-CoA Dehydrogenases
• octanoic acid

Topics

• Acyl Coenzyme A (metabolism)
• Acyl-CoA Dehydrogenases (metabolism)
• Adipates (urine)
• Animals
• Caprylates (metabolism)
• Electron Transport
• Electron-Transferring Flavoproteins
• Fatty Acids (metabolism)
• Fibroblasts (metabolism)
• Flavin-Adenine Dinucleotide (metabolism)
• Flavoproteins (metabolism)
• Glutarates (urine)
• Lipid Metabolism, Inborn Errors (enzymology)
• Liver (enzymology)
• Malonates (urine)
• Mitochondria (enzymology)
• Palmitoyl Coenzyme A (metabolism)
• Succinates (metabolism)
• Succinic Acid
• Swine