Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts

Science ◽  
1983 ◽  
Vol 221 (4605) ◽  
pp. 73-75 ◽  
Author(s):  
W. Rhead ◽  
B. Amendt ◽  
K. Fritchman ◽  
S. Felts
Keyword(s):  
Dicarboxylic Aciduria ◽  
Medium Chain ◽  
Chain Acyl

DICARBOXYLIC ACIDURIA DUE TO MEDIUM CHAIN ACYL CoA DEHYDROGENASE DEFECT.

1983 ◽  
Vol 72 (6) ◽  
pp. 943-949 ◽  
Author(s):  
P. DIVRY ◽  
M. DAVID ◽  
N. GREGERSEN ◽  
S. KØLVRAA ◽  
E. CHRISTENSEN ◽  
...  
Keyword(s):  
Dicarboxylic Aciduria ◽  
Medium Chain ◽  
Chain Acyl

Sudden Child Death and `Healthy' Affected Family Members With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

PEDIATRICS ◽  
1986 ◽  
Vol 78 (6) ◽  
pp. 1052-1057
Author(s):  
Marinus Duran ◽  
Marchinus Hofkamp ◽  
William J. Rhead ◽  
Jean-Marie Saudubray ◽  
Sybe K. Wadman
Keyword(s):  
Fatty Acids ◽  
Coenzyme A ◽  
Family Members ◽  
Reye Syndrome ◽  
Dicarboxylic Aciduria ◽  
Medium Chain ◽  
Medium Chain Fatty Acids ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Chain Fatty Acids

A family is described in which the father and three (and probably all four) of his children had a decreased capacity for the oxidation of medium-chain fatty acids. One of the children suddenly died at the age of 16 months following an episode of a rapidly deteriorating Reye syndrome-like illness with hypoketotic hypoglycemia and dicarboxylic aciduria, but without any previous alarming symptoms. The eldest sibling had died at the age of 19 months under similar conditions. The other family members had always been healthy. On fasting, all affected family members accumulated in their plasma the medium-chain fatty acids octanoic, decanoic, and cis-4-decenoic acids. Their urinary organic acid excretion profile could be characterized as "dicarboxylic aciduria." A deficiency of medium-chain acyl-coenzyme A dehydrogenase was demonstrated in a postmortem liver sample of the index patient. Cultured fibroblasts from the father and the two healthy children had a decreased rate of [14C]octanoate oxidation. It is suggested that a deficiency of medium-chain acyl-coenzyme A dehydrogenase may lead to a life-threatening illness when other complicating factors such as diarrhea and vomiting result in an abnormal depletion of the body's glycogen stores. Careful monitoring of at-risk patients during a minor illness is necessary.

A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome

1984 ◽  
Vol 7 (2) ◽  
pp. 62-64 ◽  
Author(s):  
J. A. Del Valle ◽  
M. J. Garcia ◽  
B. Merinero ◽  
C. Pérez-Cerdá ◽  
F. Roman ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Reye's Syndrome ◽  
Dicarboxylic Aciduria ◽  
Medium Chain ◽  
Chain Acyl
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