Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts

1996 ◽  
Vol 19 (3) ◽  
pp. 379-380 ◽  
Author(s):  
W. C. Ip ◽  
J. W. Hammond ◽  
B. Wilcken
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Normal Activity ◽  
Skin Fibroblasts ◽  
Acid Oxidation ◽  
Oxidation Activity ◽  
Cultured Skin

scholarly journals Correction of Fatty Acid Oxidation in Carnitine Palmitoyl Transferase 2–Deficient Cultured Skin Fibroblasts by Bezafibrate

2003 ◽  
Vol 54 (4) ◽  
pp. 446-451 ◽  
Author(s):  
Fatima Djouadi ◽  
Jean-Paul Bonnefont ◽  
Laure Thuillier ◽  
Véronique Droin ◽  
Noman Khadom ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Skin Fibroblasts ◽  
Acid Oxidation ◽  
Carnitine Palmitoyl Transferase ◽  
Cultured Skin

Hypoglycemia, Hypotonia, and Cardiomyopathy: The Evolving Clinical Picture of Long-Chain Acyl-CoA Dehydrogenase Deficiency

PEDIATRICS ◽  
1991 ◽  
Vol 87 (3) ◽  
pp. 328-333 ◽  
Author(s):  
William R. Treem ◽  
Jeffrey S. Hyams ◽  
Charles A. Stanley ◽  
Daniel E. Hale ◽  
Harris B. Leopold
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Response To Treatment ◽  
Acid Oxidation ◽  
Medium Chain ◽  
Chain Acyl ◽  
History Of ◽  
Related Enzyme ◽  
Long Chain

Inherited defects in fatty acid oxidation, which have been described and diagnosed with increasing frequency in the last decade, are most commonly attributed to a deficiency in the activity of medium-chain acyl-CoA dehydrogenase. Few cases of the related enzyme defect of long-chain acyl-CoA dehydrogenase activity have been reported. An infant with documented long-chain acyl-CoA dehydrogenase deficiency is described with a detailed metabolic profile, long-term clinical follow-up, and response to treatment. This patient is compared with the seven previously published cases of this disorder in order to stress the unique features of the initial presentation, more subtle late manifestations of the disease, and clinical and biochemical differentiation from the more common medium-chain acyl-CoA dehydrogenase deficiency. This report stresses the enlarging spectrum of the clinical presentation and natural history of this defect in fatty acid oxidation.

Round Table Discussion

2016 ◽  
Vol 68 (Suppl. 3) ◽  
pp. 21-23
Author(s):  
Susan Winter ◽  
Neil R.M. Buist ◽  
Nicola Longo ◽  
Saro H. Armenian ◽  
Gary Lopaschuk ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Round Table ◽  
Acid Oxidation ◽  
Round Table Discussion ◽  
Table Discussion ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Long Chain

The 1st International Carnitine Working Group concluded with a round table discussion addressing several areas of relevance. These included the design of future studies that could increase the amount of evidence-based data about the role of carnitine in the treatment of fatty acid oxidation defects, for which substantial controversy still exists. There was general consensus that future trials on the effect of carnitine in disorders of fatty acid oxidation should be randomized, double-blinded, multicentered and minimally include the following diagnoses: medium-chain acyl coenzyme A (CoA) dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and mitochondrial trifunctional protein deficiency. Another area that generated interest was trials of carnitine in cardiomyopathy and, especially, the use of biomarkers to identify patients at greater risk of cardiotoxicity following treatment with anthracyclines. The possibility that carnitine treatment may lead to improvements in autistic behaviors was also discussed, although the evidence is still not sufficient to make any firm conclusions in this regard. Preliminary data on carnitine levels in children and adolescents with primary hypertension, low birth weight and nephrotic syndrome was also presented. Lastly, the panelists stressed that there remains an objective need to harmonize the terminology used to describe carnitine deficiencies (e.g., primary, secondary and systemic deficiency).

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