caa a22 4500 475784987 CHVBK 20180406123655.0 cr unu---uuuuu 170329e20001101xx s 000 0 eng 10.1007/PL00008366 doi (NATIONALLICENCE)springer-10.1007/PL00008366 3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father [Elektronische Daten] [Gepke Visser, Terttu Suormala, G. Peter A. Smit, Dirk-Jan Reijngoud, Margreet Th. E. Bink-Boelkens, Klary E. Niezen-Koning, E. Regula Baumgartner] Three affected members of one family, each with a different clinical presentation of isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency are described. The index patient presented at 7 weeks of age with feeding difficulties, sweating and tachypnoea. Echocardiography showed a severely dilated left ventricle with minimal contractility. MCC deficiency was suspected on the basis of elevated urinary excretion of 3-hydroxyisovalerate and 3-methylcrotonylglycine. Deficiency of MCC activity was found in lymphocytes and fibroblasts (ca. 2% of mean normal). Serum carnitine was low (free 10 μmol/l). Some other possible causes of cardiomyopathy were excluded. Cardiomyopathy was not improved by carnitine therapy. The healthy father and a developmentally delayed brother also had MCC deficiency. Both also had decreased serum carnitine concentrations, but without cardiac involvement. Dilatative cardiomyopathy as predominant symptom in isolated MCC deficiency has not been described before, although severe carnitine deficiency is a common finding in MCC deficiency. It is not clear whether this is a coincidental association. Conclusion In order to understand the phenotypic spectrum of this rare disorder, cardiac evaluation should be made in patients with 3-methylcrotonyl-CoA carboxylase deficiency. Biochemical and clinical investigations have also to be performed in their parents and siblings. In addition, 3-methylcrotonyl-CoA carboxylase deficiency should be included in the differential diagnosis of dilatative cardiomyopathy. Springer-Verlag Berlin Heidelberg, 2000 Key words Cardiomyopathy nationallicence Carnitine deficiency nationallicence Inborn error of leucine metabolism nationallicence Isolated 3-methylcrotonyl-CoA carboxylase deficiency nationallicence Abbreviations3-HIVA 3-hydroxyisovalerate nationallicence MCC 3-methylcrotonyl-CoA carboxylase nationallicence 3-MCG 3-methylcrotonylglycine nationallicence PC pyruvate carboxylase nationallicence PCC propionyl-CoA carboxylase nationallicence Visser Gepke Wilhelmino Children's Hospital, PO Box 85090, 3508 AB Utrecht, The Netherlands e-mail: g.visser@oprit.rug.nl Fax: 31 30 2505346, NL aut Suormala Terttu Metabolic Unit, University Children's Hospital, Basel, Switzerland, CH aut Smit G. Peter A. Beatrix Children's Hospital, University Hospital Groningen, Groningen, The Netherlands, NL aut Reijngoud Dirk-Jan Beatrix Children's Hospital, University Hospital Groningen, Groningen, The Netherlands, NL aut Bink-Boelkens Margreet Th. E. Beatrix Children's Hospital, University Hospital Groningen, Groningen, The Netherlands, NL aut Niezen-Koning Klary E. Beatrix Children's Hospital, University Hospital Groningen, Groningen, The Netherlands, NL aut Baumgartner E. Regula Metabolic Unit, University Children's Hospital, Basel, Switzerland, CH aut https://doi.org/10.1007/PL00008366 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00008366 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Visser Gepke Wilhelmino Children's Hospital, PO Box 85090, 3508 AB Utrecht, The Netherlands e-mail: g.visser@oprit.rug.nl Fax: 31 30 2505346, NL aut NATIONALLICENCE 700 1- Suormala Terttu Metabolic Unit, University Children's Hospital, Basel, Switzerland, CH aut NATIONALLICENCE 700 1- Smit G. Peter A. Beatrix Children's Hospital, University Hospital Groningen, Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- Reijngoud Dirk-Jan Beatrix Children's Hospital, University Hospital Groningen, Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- Bink-Boelkens Margreet Th. E. Beatrix Children's Hospital, University Hospital Groningen, Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- Niezen-Koning Klary E. Beatrix Children's Hospital, University Hospital Groningen, Groningen, The Netherlands, NL aut NATIONALLICENCE 700 1- Baumgartner E. Regula Metabolic Unit, University Children's Hospital, Basel, Switzerland, CH aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer