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  • 1
    Electronic Resource
    Electronic Resource
    3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father (2000)
    Springer
    European journal of pediatrics 159 (2000), S. 901-904 
    Details
    ISSN: 1432-1076
    Keywords: Key words Cardiomyopathy ; Carnitine deficiency ; Inborn error of leucine metabolism ; Isolated 3-methylcrotonyl-CoA carboxylase deficiency ; Abbreviations3-HIVA 3-hydroxyisovalerate ; MCC 3-methylcrotonyl-CoA carboxylase ; 3-MCG 3-methylcrotonylglycine ; PC pyruvate carboxylase ; PCC propionyl-CoA carboxylase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00008366
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  • 2
    Electronic Resource
    Electronic Resource
    Holocarboxylase synthetase deficiency: Early diagnosis and management of a new case (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 446-449 
    Details
    ISSN: 1432-1076
    Keywords: Holocarboxylase synthetase deficiency ; Multiple carboxylase deficiency ; Organic aciduria ; Biotin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present a new case of holocarboxylase synthetase (HCS) deficiency, a rare autosomal recessive metabolic disorder, causing the “early-onset” form of multiple carboxylase deficiency. The patient was born at term of healthy consanguineous parents after an uncomplicated pregnancy. On the 2nd day of life she refused oral feeding, became tachydyspnoeic and showed excessive weight loss. Laboratory studies showed metabolic acidosis, marked lactic acidaemia, hyperammonaemia and increased urinary excretion of 3-hydroxyisovaleric acid, 3-methylcrotonyglycine, 3-hydroxypropionic acid and methylcritric acid. Peritoneal dialysis combined with oral supplementation of biotin (10 mg/day) started on the 3rd day of life resulted in rapid clinical recovery and normalisation of biochemical parameters. HCS deficiency was established in lymphocytes and skin fibroblasts. The activities of all biotin-dependent carboxylases were severely decreased in fibroblasts grown in medium with moderate biotin concentration (10−8 mol/l) but normal in a high biotin medium (10−5 mol/l). Mitochondrial carboxylase activities in lymphocytes were 23%–29% of mean normal during therapy with 20 mg of biotin/day, with the higher dose of 40 mg/day they were within (3-methylcrotoryl-CoA carboxylase, pyruvate carboxylase) or slightly below (propionyl-CoA carboxylase) the normal range. At the age of 3 years the patient's physical and psychomotor development are normal. Early biotin supplementation should be considered in newborns with lactic acidosis and organoaciduria until a final diagnosis has been established. Furthermore, the required individual dose of biotin has to be carefully evaluated biochemically for the individual patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955908
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  • 3
    Electronic Resource
    Electronic Resource
    Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 225-229 
    Details
    ISSN: 1432-1076
    Keywords: Key words Partial isolated MCC deficiency ; Organic aciduria ; Lethal outcome ; Inborn error of leucine metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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 hypotonia, failure to thrive (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate brain atrophy. The clinical presentation was more severe than in many patients with complete MCC deficiency. Dietary therapy was biochemically effective as shown by normalization of organic acid excretion, however, had no effect on the CNS symptoms. Conclusion We speculate that the severity of the disease could be related primarily to deficiency of MCC activity in the brain. Variable MCC activity among various organs may explain the peculiar clinical picture in this patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050800
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    Paper (German National Licenses)
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