Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure

European Journal of Pediatrics
U N WiesmannE R Baumgartner

Abstract

Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct relatively mild clinical picture in a single patient. We describe another patient with isolated partial MCC deficiency who suffered from failure to thrive, muscular hypotonia and progressive respiratory insufficiency with fatal outcome at the age of 6.5 months. MCC deficiency was suspected at 3 months of age on the basis of mildly elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine and confirmed by enzyme analysis in lymphocyte and fibroblast homogenates. Residual MCC activity in lymphocytes was 25% of the mean normal value. Residual activity in fibroblasts was lower than in lymphocytes (3.8% of mean normal) and not significantly different from that in patients with complete MCC deficiency. However, the residual incorporation of 14C-isovalerate into macromolecules in intact fibroblasts, was clearly higher (28% of mean normal) than in fibroblasts with complete MCC deficiency (<4%). In both patients with partial deficiency the residual MCC activity was higher in lymphocytes than in fibroblasts. Clinical symptoms and signs in our patient attributable to MCC deficiency include muscular ...Continue Reading

Citations

Mar 14, 2008·Journal of Inherited Metabolic Disease·B Wilcken
Aug 7, 1999·Clinica Chimica Acta; International Journal of Clinical Chemistry·L P ThuyW L Nyhan
Feb 22, 2001·The Journal of Clinical Investigation·M R BaumgartnerD Valle
Jan 24, 2012·Molecular Genetics and Metabolism·Raphael J MorscherMatthias R Baumgartner
Oct 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Peter J ShepardKelly A Frazer
Jun 19, 2002·Seminars in Neonatology : SN·H Ogier de Baulny, J M Saudubray
Jul 23, 2003·Journal of Inherited Metabolic Disease·D D KoeberlD M Frazier

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