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  • 1
    Electronic Resource
    Electronic Resource
    Increased serum urate in galactosemia patients after a galactose load: A possible role of nucleotide deficiency in galactosemic liver injury (1975)
    Springer
    Journal of molecular medicine 53 (1975), S. 1169-1170 
    Details
    ISSN: 1432-1440
    Keywords: Galaktose ; Galaktosämie ; Harnsäure im Serum ; Nucleotidmangel ; Leberschädigung ; Galactose ; Galactosemia ; Urate in serum ; Nucleotide deficiency ; Liver injury
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Five galactosemic and 5 normal children received an oral load of galactose under standardized conditions. The maximal blood galactose level after 1.5 hours was 12.6±2.0 (S.D.) mmol/l in individuals with a deficiency of uridylyl transferase (EC2.7.7.12) as compared to 5.8±1.2 (S.D.) mmol/l in the controls. The concentration of serum urate in galactosemics increased to 155% of the fasting level (P〈0.005); no rise was detectable in the controls. The elimination of urate with the urine was augmented by the same amount in both groups. Our studies provide evidence for an increased catabolism of hepatic nucleotides. This may lead to a deficiency of nucleotides which is proposed as a cause of galactosemic liver injury.
    Notes: Zusammenfassung Fünf galaktosämische und 5 normale Kinder wurden unter standardisierten Bedingungen oral mit Galaktose belastet. Nach 1,5 Std wurde bei Kindern mit inaktiver Uridylyltransferase (EC2.7.7.12) ein maximaler Galaktosegehalt im Vollblut von 12,6±2,0 (S.D.) mmol/l erreicht; der entsprechende Wert bei den Kontrollkindern betrug 5,8±1,2 (S.D.) mmol/l. Die Harnsäurekonzentration im Serum der Galaktosämiker stieg dabei auf 155% der Ausgangswerte an (P〈0.005); ein Anstieg bei den Kontrollkindern blieb aus. Die Harnsäureausscheidung im Urin war bei beiden Gruppen in gleichem Ausmaß erhöht. Die Befunde sprechen für einen vermehrten Nucleotidabbau in der galaktosämischen Leber unter Galaktosebelastung; ein Nucleotidmangel wird als Ursache der galaktosämischen Leberschädigung diskutiert.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01476458
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  • 2
    Electronic Resource
    Electronic Resource
    Verschiedene, Ph1-positive und Ph1-negative cytogenetische Stammlinien bei myelomonocytärem Proliferationssyndrom im frühen Kindesalter (1975)
    Springer
    Journal of molecular medicine 53 (1975), S. 431-436 
    Details
    ISSN: 1432-1440
    Keywords: Chronic myelomonocytic leukemia ; Philadelphiachromosome ; cytogenetic mosaicism in chronic myelocytic leukemia ; Chronisch-myeloische Leukämie ; myelomonocytäre Leukämie ; Philadelphia-Chromosom ; cytogenetisches Mosaik bei chronisch-myeloischer Leukämie
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über den Krankheitsverlauf eines Kleinkindes mit myelo-monocytärer Leukose berichtet, das bis auf die typische Fetalisierung der Erythropoese weitgehend die Kriterien für den juvenilen Typ einer chronischen Myelose aufwies. Überraschenderweise war in der Hälfte der Knochenmarkszellen ein Ph1-Chromosom nachweisbar. Im Verlauf der Krankheit wurde der Ph1-positive Zellklon — statt sich wie bei adulter CML sukzessive auszubreiten — durch neue Stammlinien mit anderen Chromosomenaberrationen zurückgedrängt. Die Bedeutung des cytogenetischen Mosaiks für die klinische Erscheinungsform wird diskutiert.
    Notes: Summary The authors report on an infant with myeloproliferative syndrome of the myelomonocytic type. The findings fulfilled the criteria for juvenile chronic myeloid leukemia except that there was no increase of fetal hemoglobin and no depression of erythrocyte carbonic anhydrase I. In one half of the bone marrow cells a Ph1-chromosome was found. During the course of the disease the Ph1-positive clone was successively replaced by cell lines with different chromosomal aberrations. The relationship between the cytogenetic mosaicism and the clinical and laboratory findings is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01493368
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  • 3
    Electronic Resource
    Electronic Resource
    Cholostatischer Ikterus nach disseminierter intravasaler Gerinnung („Schockleber“) (1975)
    Springer
    Journal of molecular medicine 53 (1975), S. 441-443 
    Details
    ISSN: 1432-1440
    Keywords: Cholostatic jaundice ; disseminated intravascular coagulation ; shock-liver ; newborns ; early infancy ; Cholostatischer Ikterus ; Disseminierte Intravasale Gerinnung ; Schockleber ; Frühes Säuglingsalter
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Der Krankheitsfall eines 4 Wochen alten männlichen Säuglings mit Urosepsis durch E. coli dient als Beispiel für die von uns wiederholt gemachte Beobachtung, daß cholostatische Ikterusformen bei jungen Säuglingen in engem zeitlichen Zusammenhang mit einer disseminerten intravasalen Gerinnung auftreten, die wohl durch einen septischen Schock ausgelöst wird. Wir nehmen daher an, daß in dieser Altersstufe die Leber als Schockorgan ebenso zu beachten ist wie Lungen, Nieren, Haut und Gehirn.
    Notes: Summary Recently we gained increasing evidence of the fact that cholostatic syndromes in young infants are frequently associated with preceeding shock and dissiminated intravascular coagulation. This is illustrated by the case of a 4 weeks-old male infant with urosepticemia due to E. coli, which was successfully treated with additional streptokinase. Therefore, in the age-group of early infancy we have to pay attention to the liver as a potential shock-organ similar to the well known shock organs such as kidneys, lungs, skin and brain.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01493370
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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: 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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  • 5
    Electronic Resource
    Electronic Resource
    A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria (1979)
    Springer
    European journal of pediatrics 132 (1979), S. 107-114 
    Details
    ISSN: 1432-1076
    Keywords: 3-Methylcrotonylglycin- and 3-hydroxyisovaleric aciduria ; 3-Methylcrotonyl-CoA carboxylase deficiency ; Organic acidurias ; Biotinresponsive organic aciduria ; Convulsions due to metabolic disorders
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract During selective screening for organic acidurias, a 10-week-old girl with muscular hypotonia and recurrent fits was shown to be excreting 3-methylcrotonylglycin and 3-hydroxyisovaleric acid. Besides these metabolites of leucine the presence of small but pathological amounts of propionic and methylcitric acids were demonstrable in her urine, pointing to a defect in the metabolism of biotin. On treatment with biotin (2×5 mg/day) the convulsions stopped at once, her clinical condition improved gradually, and the abnormal metabolites disappeared from the urine. Within 6 weeks the child was discharged in a good general condition without apparent signs of neurological damage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00447377
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  • 6
    Electronic Resource
    Electronic Resource
    Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia (1978)
    Springer
    European journal of pediatrics 128 (1978), S. 197-205 
    Details
    ISSN: 1432-1076
    Keywords: Propionic acidemia ; Organic acidemias ; Organic acidurias ; Inherited disorders of the metabolism of organic acids ; 2-Methyl-3-oxovaleric acid ; Liver histology in propionic acidemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Nach einer kurzen Erläuterung der biochemischen Grund-lagen wird am Beispiel eines eigenen Falles von Propionacidämie auf die Frühsymptomatik (vermehrte Schläfrigkeit, Muskelhypotonie, Trinkschwäche, Hypothermie, metabolische Acidose, Ketonurie, Erbrechen), die durchgeführten Therapieversuche, die Obduktionsbefunde und auf Urinuntersuchungen mit Hilfe der Gaschromatographie und der Gaschromatographie-Massenspektrometrie eingegangen. Diese Untersuchungen ergaben, daß neben den bei Propionacidämie bekanntermaßen im Urin ausgeschiedenen Metaboliten, wie Propion-, 3-Hydroxypropion- und Methylcitronensäure, auch 2-Methyl-3-oxovaleriansäure, das Kondensationsprodukt zweier Moleküle Propionyl-CoA, in nennenswertem Umfang synthetisiert und im Harn nachgewiesen werden kann.
    Notes: Abstract A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding, hypothermia, metabolic acidosis, ketonuria and vomiting. Investigation by gas chromatography (GC) and gas chromatography-mass spectrometry (GC-MS) revealed the excretion of fairly high amounts of 2-methyl-3-oxovaleric acid, a condensation product of two molecules of propionyl-CoA, as well as the known pathological metabolites such as propionic, 3-hydroxypropionic and methylcitric acids. Among the post mortem findings the histological studies of the liver were the most remarkable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00444305
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  • 7
    Electronic Resource
    Electronic Resource
    4-Hydroxyisovaleric acid: A new metabolite in isovaleric acidemia (1981)
    Springer
    European journal of pediatrics 136 (1981), S. 281-283 
    Details
    ISSN: 1432-1076
    Keywords: 4-Hydroxyisovaleric acid ; 3-Methyl-γ-butyrolacetone ; Isovaleric acidemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In addition to N-isovalerylglycin, isovaleric, 3-hydroxyisovaleric and methylsuccinic acids the excretion of previously unreported 4-hydroxyisovaleric acid in isovaleric acidemia is described. The new metabolite seems to be an intermediate product in the formation of methylsuccinic acid from isovaleric acid by omega-oxidation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442995
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  • 8
    Electronic Resource
    Electronic Resource
    Seven years of experience with selective screening for organic acidurias (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 208-210 
    Details
    ISSN: 1432-1076
    Keywords: Screening ; Inborn errors of metabolism ; Organic acidurias ; Propionic acidemia ; Incidence of organic acidurias
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Between 1975 and 1981 nearly 9000 patients with suspected inherited metabolic diseases were investigated by a selective screening procedure including, apart from simple tests for ketone bodies, sugars and SH-containing compounds, high voltage electrophoresis of amino acids as well as gas liquid chromatography and gas liquid chromatography-mass spectrometry of the organic acids. Fifty-two cases with 18 different inborn errors of metabolism were detected. The effectivity index was calculated to be 0.6% or 1 case in about 170 requests. From the presented and from already existing data in the literature the overall incidences for all organic acidurias together and for propionic acidemia separately were appraized to be 1:10000 and 1:50000, respectively. About half of the patients diagnosed by this screening may benefit from the diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442451
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  • 9
    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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  • 10
    Electronic Resource
    Electronic Resource
    Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 660-664 
    Details
    ISSN: 1432-1076
    Keywords: Key words Lipoprotein lipase ; Hypertriglyceridaemia ; Hypersalivation ; Pancreatitis ; DNA ; analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An 8-year-old boy with frequently recurring pancreatitis-like abdominal pain, Fredrickson type V dyslipidaemia, and significantly decreased post-heparin plasma lipoprotein lipase (LPL) activity is described. In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revealing compound heterozygosity for two mutations (Asp9Asn, Ser447Ter) which are not supposed to considerably impair lipolytic enzyme activity. However, until now the combination of both these mutations in one patient has not been observed. In addition to the common symptoms of LPL deficiency, a striking feature of unknown origin was hypersalivation. Treatment including a fat-restricted diet, omega-3 fatty acids, and nicotinic acid led to long symptom-free intervals. Symptoms recurred however when the diet was not strictly adhered to. Conclusion LPL deficiency is a rare cause of abdominal pain in childhood and deserves careful treatment in order to avoid pancreatitis. The presented patient is a unique compound heterozygote for two mutations which do not abolish lipolytic activity in the homozygote state. Identification of other individuals with this genotype is necessary to understand the phenotype in our patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957148
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