ISSN:
1432-1076
Keywords:
Glutaric aciduria type II
;
Multiple acyl-CoA dehydrogenase deficiency
;
Organic aciduria
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Two male siblings suffering from a severe form of glutaric aciduria type II were studied. One patient died within one hour after birth, the other at the age of five days. Both patients presented with respiratory distress soon after birth. They had a variety of congenital morphologic abnormalities. One patient's outstanding “sweaty-feet” odour on the second day of life led to organic acid analysis of urine revealing massive lactic, glutaric, and ethylmalonic aciduria along with a high excretion of various other carboxylic acids and glycine conjugates of the branched chain carboxylic acids. The pattern of metabolites in serum and urine as well as results of degradation studies with various substrates in cultured fibroblasts were consistent with a defect in multiple acyl-CoA dehydrogenation. The morphological abnormalities are presented in a subsequent paper.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442081
