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  • 1
    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: 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 exretion. 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957906
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  • 2
    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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  • 3
    Electronic Resource
    Electronic Resource
    Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 800-802 
    Details
    ISSN: 1432-1076
    Keywords: Key words Inspiratory stridor  ;  Multiple acyl-CoA dehydrogenation deficiency  ;  Riboflavin therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Inspiratory stridor of unknown origin was the␣leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of n-isobutyryl-, n-2-methylbutyryl-, n-isovaleryl-, n-hexanoyl- and n-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a␣dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. Conclusion As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050717
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  • 4
    Electronic Resource
    Electronic Resource
    Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 730-733 
    Details
    ISSN: 1432-1076
    Keywords: Key words Organic aciduria ; Branched-chain amino acids ; Acute infantile hemiplegia ; 3-methylcrotonyl-CoA carboxylase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal and showed hemilateral focal edema and gliosis at later stages. 3-Methylcrotonyl-CoA carboxylase deficiency was suggested by elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, and confirmed by enzyme assays. The patient was treated with protein restriction and carnitine and remained stable during the following 5 years. Hemiparesis and some developmental delay persisted. Conclusion In acute focal brain disease, metabolic disorders must be considered. 3-Methylcrotonyl-CoA carboxylase deficiency adds to the list of possible causes of “metabolic stroke”.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051189
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  • 5
    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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  • 6
    Electronic Resource
    Electronic Resource
    Long-term follow up of a new case of hawkinsinuria (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 578-582 
    Details
    ISSN: 1432-1076
    Keywords: Key words Hawkinsinuria ; 4-hydroxycyclohexylacetic acid ; Tyrosyluria ; Chronic metabolic acidosis ; Growth retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hawkinsinuria is a rarely diagnosed autosomal dominantly transmitted inborn error of tyrosine metabolism with impaired conversion of 4-hydroxyphenylpyruvate to homogentisate. As a consequence of the defective 4-hydroxyphenylpyruvate dioxigenase activity, large amounts of the unusual, ninhydrin-positive amino acid hawkinsin and later on in life 4-hydroxycyclohexylacetic acid are formed and excreted. Clinically the disease is characterised mainly by chronic metabolic acidosis and severe growth retardation as a result of protein overload. As the ability to form 4-hydroxycyclohexylacetic acid and thereby to cope with the still not very well defined reactive and toxic intermediates increases, clinical symptoms vanish. We report here a new patient with hawkinsinuria having experienced a series of admissions because of unclear hepatopathy, growth retardation, and renal tubular acidosis. Conclusion Prolonged tyrosyluria in the newborn and young baby should cause the clinical chemist not only to exclude tyrosinaemia, galactosaemia, and fructose intolerance but also to look carefully for hawkinsin in the aminoacid chromatogram.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051151
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  • 7
    Electronic Resource
    Electronic Resource
    Elektronystagmographische Untersuchungen zur Seitenungleichheit des optokinetischen Nystagmus (1966)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 170 (1966), S. 137-146 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 100 students with healthy eyes were investigated electronystagmographically as to the frequently described differences between right and left nystagmus. In addition the correlations of these side-differences with handedness and eyedness were searched for. We evaluated frequency, amplitude and strength (frequency x amplitude) of the nystagmus. Not only the frequency of right and left nystagmus was considered, but by the formation of the quotient left nystagmus/right nystagmus also quantitative differences were included in the evaluation. No significant side-differences between right and left nystagmus were found. As to other functional side-differences as handedness and eyedness no correlations of the direction of the nystagmus with the eyedness were found. Between direction of nystagmus and handedness there seem to exist closer relations which are most pronounced with regard to the amplitude, but not significant. The functional asymmetry, in human beings frequently occurring, is not to be found in a side-comparison of the optokinetic nystagmus.
    Notes: Zusammenfassung 100 augengesunde Studenten wurden elektronystagmographisch auf die oft beschriebenen Unterschiede zwischen Rechts- und Linksnystagmus hin untersucht. Zusätzlich wurde nach Zusammenhängen dieser Seitendifferenzen mit der Äugigkeit und Händigkeit gesucht. Bewertet wurden Frequenz, Amplitude und Stärke (Frequenz x Amplitude) des Nystagmus. Dabei wurde nicht nur die Häufigkeitsverteilung des Rechtsund Linksnystagmus berücksichtigt, sondern durch die Bildung des Quotienten Linksnystagmus/Rechtsnystagmus auch quantitative Unterschiede in die Be-Wertung mit einbezogen. Dabei ergaben sich keinerlei signifikante Seitenunterschiede zwischen Rechts- und Linksnystagmus. Bezüglich anderer funktioneller Seitendifferenzen wie Händigkeit und Äugigkeit fanden sich keine Zusammenhänge der Nystagmusrichtung mit der Äugigkeit. Engere Beziehungen scheinen zwischen Nystagmusrichtung und Händigkeit zu bestehen, die bezüglich der Amplitude am deutlichsten, jedoch auch hier keineswegs signifikant sind. Die beim Menschen meist recht deutliche funktionelle Asymmetrie findet sich somit nicht bei einem Seitenvergleich des optokinetischen Nystagmus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00419513
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  • 8
    Electronic Resource
    Electronic Resource
    Das Elektroretinogramm in verschiedenen Lebensaltern (1966)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 170 (1966), S. 147-155 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary In the course of life also the electroretinogram develops certain changes: the potentials of the b-wave as well as of the a-wave decrease remarkably. These changes are especially pronounced beyond the 3rd and 4th decades of life. A dependence of these findings upon the intensity of the stimulus applied was to be found only for the a-wave in such a sense that the decrease of the potential becomes somewhat more pronounced with increasing intensity. The causes of these biomorphotic changes have to be found in the retina itself, because extra-retinal factors such as the size of the pupil and opacity of the lens were eliminated in our material. As in all electroretinograms there were considerable individual variations. The broad dispersion of values does not permit to conclude from the individual electroretinograms upon the “biological” age of the retina. We hope, however, that improvements of the investigation methods will bring further success in future time.
    Notes: Zusammenfassung Auch das ERG erfährt im Laufe des Lebens Veränderungen, indem nicht nur die Potentialhöhen der b-Wellen, sondern auch die der a-Wellen deutlich abnehmen. Diese Veränderungen sind besonders jenseits des 3.–4. Lebensjahrzehnts ausgeprägt. Eine Abhängigkeit dieser Befunde von der verwendeten Reizintensität fand sich dabei lediglich für die a-Welle in dem Sinne, daß der Höhenabfall mit steigender Intensität gering steiler wird. Die Ursachen dieser altersabhängigen Veränderungen müssen in der Retina selbst gesucht werden, da extraretinale Faktoren wie Pupillengröße und Linsentrübungen im vorliegenden Material weitgehend eliminiert wurden. Wie bei allen ERG-Arbeiten fanden sich auch hier erhebliche Streubereiche durch die großen individuellen Variationen. Die große Streubreite der Werte erlaubt deshalb nicht, aus dem ERG im Einzelfall auf das „biologische“ Alter der Netzhaut zu schließen. Es ist jedoch zu hoffen, daß Verbesserungen der Untersuchungstechnik in Zukunft hier weitere Erfolge bringen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00419514
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  • 9
    Electronic Resource
    Electronic Resource
    Mitochondrial acetoacetyl-CoA thiolase (β-ketothiolase) deficiency and pregnancy (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 441-442 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005335515166
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  • 10
    Electronic Resource
    Electronic Resource
    Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency (1995)
    Springer
    Journal of inherited metabolic disease 18 (1995), S. 143-146 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00711750
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