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.
Pollitt
R J
RJ
Regional Neonatal Screening Laboratory, Middlewood Hospital, Sheffield, UK.
Fowler
B
B
Sardharwalla
I B
IB
Edwards
M A
MA
Gray
R G
RG
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