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  • Electronic Resource  (5)
  • Biotinidase deficiency  (3)
  • 3-methylcrotonyl-CoA carboxylase  (1)
  • Abbreviations3-HIVA 3-hydroxyisovalerate  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC)
    Amsterdam : Elsevier
    Clinica Chimica Acta 177 (1988), S. 253-269 
    Details
    ISSN: 0009-8981
    Keywords: Biocytin ; Biotin derivatives ; Biotinidase deficiency ; HPLC
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(88)90070-8
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    Paper (German National Licenses)
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  • 2
    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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  • 3
    Electronic Resource
    Electronic Resource
    Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 21-26 
    Details
    ISSN: 1432-1076
    Keywords: Intestinal absorption of biotin ; Renal excretion of biotin ; Biotinidase deficiency ; Carboxylase activities in lymphocytes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have investigated four patients from three unrelated families with typical clinical and biochemical features of “late-onset” multiple carboxylase deficiency. All patients suffered from biotinidase deficiency (plasma biotinidase activities 1.4%–3% of normal). Intestinal absorption of biotin, measured in three of the patients using a single load of 1.5 μg/kg, was found to be normal. Deficient activities of the mitochondrial biotin-dependent carboxylases in lymphocytes of one of these patients increased from 25% of mean basal control values to 33%–36% within 45 min and to 46%–47% within 2 h of the 1.5 μg/kg biotin load. After a high biotin load of 100 μg/kg, the values normalised within 45 min in all three patients studied. These results indicate normal cellular transport of biotin and normal holocarboxylase synthesis. After cessation of biotin supplementation, the plasma and urinary biotin in patients decreased to subnormal levels. In one patient, available for more detailed studies, both plasma and urinary biotin declined about twice as fast as in controls (apparent half-life 12–14 h in the patient and 26 h in controls). These results point to increased excretion of free biotin in our patient. Renal loss of biotin is one of the factors contributing to the high biotin requirement observed in patients with biotinidase deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00491919
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 568-572 
    Details
    ISSN: 1432-1076
    Keywords: Key words Isolated ; 3-methylcrotonyl-CoA carboxylase ; deficiency ; Inborn errors of ; metabolism ; Biotin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with early-onset 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency showing a severe clinical course is described. Abnormal eye and head movements suggestive of seizures were noticed soon after birth. Tonic convulsions at the age of 10 weeks led to admission. Urinary organic acid analysis using gas chromatography-mass spectrometry at 3 months of age revealed elevated concentrations of 3-hydroxyisovaleric acid (3HIVA) and 3-methylcrotonylglycine but normal levels of lactate, 3-hydroxypropionate and methylcitrate suggesting isolated MCC deficiency. This was confirmed by enzyme assays in lymphocytes and cultured skin fibroblasts: MCC activity was virtually undetectable whereas activities of propionyl-CoA and pyruvate carboxylases were within the normal range. A low protein (0.8–1.5 g/kg/ day) diet supplemented with a leucine-free amino acid mixture resulted in a marked decrease of 3HIVA excretion. l-Carnitine and biotin administration had no effect on the clinical condition or metabolite excretion. Supplementation with glycine resulted in only a temporary fall of 3HIVA excretion and was therefore discontinued. l-Carnitine therapy was reintroduced later because of secondary carnitine deficiency. Compliance with treatment was poor until the age of 27 months resulting in a severe episode with seizures and coma. The general clinical condition of the patient was always good but his psychomotor development was delayed and seizures were not continuously under good control due to poor therapy compliance. The boy is now 10.5 years old and attending a school for children with learning handicaps. Conclusion Isolated MCC deficiency of early-onset is a rare condition exhibiting a more severe clinical course than the later-onset form described in most other cases. The prognostic value of 3 HIVA measurements in CSF and serum should be evaluated in future cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957906
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  • 5
    Electronic Resource
    Electronic Resource
    Na+-dependent biotin transport into brush-border membrane vesicles from human kidney cortex (1993)
    Springer
    Pflügers Archiv 422 (1993), S. 499-505 
    Details
    ISSN: 1432-2013
    Keywords: Biocytin ; Biotinidase deficiency ; Human kidney ; Renal reabsorption
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Renal reabsorption of biotin was investigated in human kidney by means of the isolated brush-border membrane vesicle technique. Biotin uptake into the vesicles was sodium-dependent producing a typical overshoot when incubated under sodium-gradient conditions (external concentration greater than internal). This effect was not observed in the presence of gradients of KCl, LiCl or choline-chloride, nor in the absence of any salt. Using the K+/valinomycin voltage-clamp method biotin uptake remained uninfluenced, i.e. was electroneutral, whereas glucose uptake (which is known to be electrogenic in kidney of other species) was greatly increased. When biotin transport was investigated as a function of external sodium concentration a stoichiometic coupling factor of 1 for the Na+-biotin− cotransport was determined. Increasing the biotin concentration in the incubation medium up to 200 μmol/l led to saturation with the kinetic parameters of 31 μmol/l for the apparent Michaelis constant and 82 nmol g protein−1 30 s−1 for the maximal transport rate. Uptake was not saturable in the concentration range of 0.001–1 μmol/l. Inhibition of the biotin uptake (25 μmol/l) was observed in the presence of 250 μmol/l dethiobiotin, bisnorbiotin, thioctic acid, and probenecid, whereas biocytin, propionic acid, lactic acid, succinic acid, citric acid, ascorbic acid, primidone and carbamazepine had no effect. We conclude that renal biotin reabsorption in human kidney is specifically sodium-dependent, saturable and electroneutral. It therefore fulfills the requirements for a secondary active carrier-mediated transport system. The results suggest that biocytin is not an inhibitor of renal biotin reabsorption.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00375078
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