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  • 1
    Electronic Resource
    Electronic Resource
    Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency (1977)
    Springer
    Inflammation research 7 (1977), S. 405-410 
    Details
    ISSN: 1420-908X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatment (1.8 g/day) was successful in correcting biochemical and clinical symptoms. The mechanism of its action is probably based on activation of pyruvate dehydrogenase through interference in the physiologic regulation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01969575
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  • 2
    Electronic Resource
    Electronic Resource
    Homozygous hypobetalipoproteinaemia and phenylketonuria (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 174-176 
    Details
    ISSN: 1432-1076
    Keywords: Hypobetalipoproteinaemia ; Abetalipoproteinaemia ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients, aged 0.1 and 2 years, with homozygous hypobetalipoproteinaemia, one with PKU in addition are described. The clinical evaluation showed no neurologic abnormalities. Treatment with a fat-reduced, protein and carbohydrate-enriched diet was combined with vitamin A and E supplementation, according to the suggestions for classical abetalipoproteinaemia. In the patient with PKU the protein intake was increased by using a phenylalanine-free, amino acid mixture. Only by this, were normal growth and weight gain achieved.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451908
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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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  • 4
    Electronic Resource
    Electronic Resource
    Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 570-575 
    Details
    ISSN: 1432-1076
    Keywords: Key words Holocarboxylase synthetase deficiency ; Biotin therapy ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical and biochemical findings in a family with late-onset holocarboxylase synthetase (HCS) deficiency are described. The index patient had two life-threatening episodes of metabolic decompensation at the age of 13 and 18 months with ketotic hypoglycaemia, vomiting and progressive loss of consciousness. The child recovered without biotin therapy. Organic aciduria characteristic of multiple carboxylase deficiency (MCD) was found, however, the key metabolites were only slightly elevated in some samples. Biotinidase deficiency was considered but excluded by the finding of normal plasma biotinidase activity. The correct diagnosis was made only at the age of 19 months when severe MCD was found in lymphocytes in the presence of normal plasma biotin concentration. HCS deficiency was confirmed by fibroblast studies. Biotin therapy (20 or 40 mg/day) prevented further episodes and normalized biochemical parameters with so far normal development. During two subsequent pregnancies, 10 mg biotin/day was administered to the mother from the 20th week of gestation. At delivery plasma biotin in cord blood samples was 3–4 times higher than in maternal plasma. The 2nd child was unaffected. In the 3rd pregnancy prenatal diagnosis was performed at 16 weeks of gestation. The concentration of methylcitrate in amniotic fluid was within the normal range and that of 3-hydroxyisovalerate only slightly elevated. However, enzyme assays in cultured amniotic fluid cells were consistent with an affected fetus. At birth, carboxylase activities in lymphocytes of this newborn were only moderately decreased to 37% of mean normal. HCS deficiency was confirmed postnatally in fibroblasts. Development remains normal on biotin therapy (20 mg/day). Conclusion Prenatal diagnosis in families with milder forms of HCS deficiency has to be performed by enzyme assays in cultured amniotic cells since organic acid analysis of amniotic fluid may be inconclusive in affected fetuses. Biotin administered prenatally is effectively taken up by the fetus and prevents functional deficiency of the carboxylases in an affected newborn.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050881
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  • 5
    Electronic Resource
    Electronic Resource
    Foamy myocardial transformation in a child with a disturbed respiratory chain (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 582-586 
    Details
    ISSN: 1432-1076
    Keywords: Foamy myocardial transformation ; Lactic acidosis ; Respiratory chain defect
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A female infant presented with signs of general muscle hypotonia and increasing hypertrophy of the heart muscle. There was a constant lactic acidosis worsened after glucose intake. Serum lactate levels were increased up to 6.7 mmol/l. Serum alanine levels reached maximum concentrations of 2800 μmol/l. The patient died after sudden cardiac arrest at 22 months of age. Histology of the heart showed the pattern of foamy myocardial transformation with accumulation of mitochondria and an increased glycogen content. Biochemical analysis of the skeletal muscle and the heart demonstrated signs of a disturbed respiratory chain. The content of cytochromeaa3 protein was decreased in skeletal muscle and heart mitochondria. It is suggested that respiratory chain defects may be the cause of foamy myocardial transformation of the heart.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02467358
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  • 6
    Electronic Resource
    Electronic Resource
    Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 478-480 
    Details
    ISSN: 1432-1076
    Keywords: Biotinidase screening ; Premature infants
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Screening for biotinidase deficiency has been added recently to some national screening programmes. To clarify the problem of false-positive screening tests in premature infants, we have studied biotinidase activities in the plasma of this population in more detail. In 64 newborns (premature and term babies) biotinidase activities correlated positively with gestational age from the 2nd to the 30th day of life. During the 1st–3rd day the activities were below the normal adult range in all 64 infants. In 56 infants the activities subsequently increased gradually and reached the normal adult range during the 4th–40th day of life. In contrast, the biotinidase activities in eight preterm infants dropped during the 3rd–7th day of life. Impaired liver function as a possible cause for this finding could be ruled out in these infants. The lowest activities in these infants were measured during the 4th–6th day of life, i.e. unfortunately at a time when samples for the screening are normally taken. According to our data, 4–8 out of 48 preterm or small-for-date infants with biotinidase activities ranging from 4.7%–26% of the mean adult value would have given false-positive screening tests. A positive screening test was also obtained in a newborn and in an older unrelated child with a partial biotinidase deficiency. In these children the biotinidase activity did not rise but remained slightly below or at the lower range for heterozygotes (at 31% and 38% of the mean adult value). Currently we do not know whether such individuals are heterozygotes, or whether they have a variant of biotinidase deficiency. However, these children have developed normally without biotin therapy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441970
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  • 7
    Electronic Resource
    Electronic Resource
    Quantitative gaschromatographic determination of short chain aldehydes and ketones in the urine of infants
    Amsterdam : Elsevier
    Clinica Chimica Acta 66 (1976), S. 287-293 
    Details
    ISSN: 0009-8981
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(76)90227-8
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  • 8
    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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  • 9
    Electronic Resource
    Electronic Resource
    An improved method for preparation of samples for the simultaneous assay of some antiepileptic drugs by gas-liquid chromatography
    Amsterdam : Elsevier
    Clinica Chimica Acta 90 (1978), S. 203-208 
    Details
    ISSN: 0009-8981
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(78)90258-9
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  • 10
    Electronic Resource
    Electronic Resource
    Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample
    Amsterdam : Elsevier
    Clinica Chimica Acta 145 (1985), S. 151-162 
    Details
    ISSN: 0009-8981
    Keywords: Biotin ; Biotinidase deficiency ; Holncarboxylase synthelase deficiency ; Single or multiple carboxylase deficiency
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(85)90282-7
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