Abstract
A 4½-month-old girl with clinical sigus of Werding-Holfmann's dicase (infantile spial muscular atrophy) had in addition a peculiar smell from her urine. Large amounts of two abnormal metabolites were found: β-methvlcrotonylglycine (β-MCC) and β-OH-isovaleric acid. (See separate paper by Strokke, Jellum and Eldjarn.) The urinary smell resembled that of cat's urine or black currant leaves. The metabolites were not found in the blood. She had no episodes of acidosis. By giving a diet low in leucine the urinary excretion of β-OH-isovaleric acid dropped from 400 mg to about 50 mg/24 hr, and β-MCC from 100 mg to about 50 mg 24 hr. The clinical course however, did not change during 3 months on diet, and it is doubtful whether her clinical condition was due to the error in leucine metabolism. She died when 9½ months old from pneumonia.
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Pandf, H., Wamfr, P., Stokke, O. et al. 6. Symptoms of infantile spinal muscular atrophy combined with a hitherto not described error in leucine metabolism. Pediatr Res 5, 84 (1971). https://doi.org/10.1203/00006450-197102000-00011
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DOI: https://doi.org/10.1203/00006450-197102000-00011