Abstract
The parient was a 4.5-month-old girl, whose parents are related. She suffered from nettrological symptioms similar to those of Werdnig-Hoffmann's disease. Clinical data are presented in the abstract of H. Pande et al. In periods the urine had a peculiar odor, like that of cat's urine. Urine and serum samples were sent to us for further examination. Several screeining procedures for abnormal metabolites were used. Analysed of urniary extracts by gas-liquid chromatography, using polar columns, showed large quantities revelated spectra compatible with β-hydroxyisovaleric acid (β-OH-IV) and β-methylcrotonylglycine (β-MCC). Analyses of synthesized authentic compounds verfied these structures. Daily amounts excreted were about 400 mg β-OH-IV and 100 mg β-MCC. Neither the metabolites nor any short chain fatty acids, including siovalevis acid, could be demonstrated in the serum, the levels of these compounds must threfore be below 0.5 mg/100 ml. Both the mother, father, and the two elder brothers, all healthy, excreated 15-10 mg β-MCC daily in the urine, indicating that the condition is genetically determined. Both β-OH-IV and β-MCC stem from the leucine degradation pathway, and the accumulation is probably due to a defective β-methylcrotonvl-CoA carboxylase. Biochemically, as well as clinically, our findings are distinctly different from previousely described errors in the leucine metabolism.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Stokke, O., Jellum, E. & Eldjare, L. 5. β-Hydroxyisovaleric aciduria and β-methylerotonylgycinuria in a newborn child, caused by a new inborn defect in the Ieucine degradation pathway. Pediatr Res 5, 84 (1971). https://doi.org/10.1203/00006450-197102000-00010
Issue Date:
DOI: https://doi.org/10.1203/00006450-197102000-00010