Abstract | UNLABELLED: 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 micromol/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:
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Authors | G Visser, T Suormala, G P Smit, D J Reijngoud, M T Bink-Boelkens, K E Niezen-Koning, E R Baumgartner |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 159
Issue 12
Pg. 901-4
(Dec 2000)
ISSN: 0340-6199 [Print] Germany |
PMID | 11131348
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Carbon-Carbon Ligases
- methylcrotonoyl-CoA carboxylase
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Topics |
- Adult
- Carbon-Carbon Ligases
(deficiency, metabolism)
- Cardiomyopathy, Dilated
(enzymology, etiology)
- Child
- Developmental Disabilities
(enzymology, etiology)
- Female
- Humans
- Infant
- Male
- Metabolism, Inborn Errors
(diagnosis, genetics)
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