Increased excretion of propan-1,3-diol and 3-hydroxypropionic acid apparently caused by abnormal bacterial metabolism in the gut.
Three patients who died in infancy showed an unusual urinary organic acid pattern with excessive excretion of 3-hydroxypropionic acid but none of the other metabolites normally associated with propionyl-CoA carboxylase deficiency. Propan-1,3-diol was present in the urine in all three cases. In the two patients examined propionyl-CoA carboxylase activity was not deficient in cultured skin fibroblasts. A fourth patient, also severely ill, showed similar urinary abnormalities. Feeding a medium-chain triglyceride-rich diet to this patient increased the ratio of 3-hydroxypropionic acid to propan-1,3-diol and resulted also in the appearance of malonic acid in the urine. These abnormal metabolites disappeared on the administration of neomycin and presumably were produced by gut bacteria.
Regional Neonatal Screening Laboratory, Middlewood Hospital, Sheffield, UK.
R J
RJ
Pollitt
B
B
Fowler
I B
IB
Sardharwalla
M A
MA
Edwards
R G
RG
Gray
D000375:Aging / Q000378:metabolism; D001424:Bacterial Infections / Q000382:microbiology / Q000652:urine*; D004064:Digestive System / Q000382:microbiology*; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007773:Lactates / Q000652:urine*; D019344:Lactic Acid / Q000031:analogs & derivatives*; D008297:Male; D011409:Propylene Glycols / Q000652:urine*
D007773:Lactates; D011409:Propylene Glycols; D019344:Lactic Acid; C041787:1,3-propanediol; C031601:hydracrylic acid