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

✍ Scribed by Hildegard Przyrembel; H. J. Bremer; M. Duran; Lieneke Bruinvis; D. Ketting; S. K. Wadman; Regula Baumgartner; U. Irle; C. Bachmann

• Publisher: Springer
• Year: 1979
• Tongue: English
• Weight: 829 KB
• Volume: 130
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/bf00441893

✦ Synopsis

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, 3oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, 2-oxo-3-methylvaleric acid, 2methyl-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.