Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels

Eur J Pediatr. 1979 Jan 18;130(1):1-14. doi: 10.1007/BF00441893.


An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. "Ketotic hyperglycinemia" was diagnosed when she was 3 years old. Reinvestigation at 9 1/2 years included a two-day load with L-isoleucine, and propionyl-CoA carboxylase assay in cultured fibroblasts. The following compounds increased following the load: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric acid, 2-ethylhydracrylic acid, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, 2-oxo-3-methylvaleric acid, 2-methyl-3-oxovaleric acid, N-tiglylglycine, methylcitric acid and butanone. Small amounts of alloisoleucine appeared in plasma. Propionyl-CoA carboxylase deficiency was suggested by this metabolite pattern and demonstrated in cultured fibroblasts.

Publication types

  • Case Reports

MeSH terms

  • Acidosis / etiology
  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Carboxy-Lyases / analysis
  • Carboxy-Lyases / deficiency*
  • Child
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Intellectual Disability / etiology
  • Isoleucine / metabolism*
  • Muscle Spasticity
  • Paraplegia / etiology


  • Isoleucine
  • Carboxy-Lyases