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  • 1
    Electronic Resource
    Electronic Resource
    Enzyme Studies in Combined Carboxylase Deficiency (1985)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 447 (1985), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1985.tb18442.x
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  • 2
    Electronic Resource
    Electronic Resource
    Trisomie 13 bei einem 4 jährigen Jungen (1997)
    Springer
    Monatsschrift Kinderheilkunde 145 (1997), S. 482-484 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Chromosomenaberration ; Psychomotorische Entwicklungsverzögerung ; Trisomie 13 ; Key words Chromosomal aberration ; Psychomotor delay ; Trisomy 13
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The case of a four-year old boy with trisomy 13 is described. The boy does not have detectable cardiac or cerebral malformations. However, he suffers from severe psychomotor delay, muscular hypotonia, cerebral convulsions, bilateral buphthalmos and bilateral optic nerve atrophy. Trisomy 13 was detected in all mitoses analysed in lymphocytes and in skin fibroblasts. Discussion: This case should serve as a reminder that trisomy 13 is compatible with long-term survival.
    Notes: Zusammenfassung Der Fall eines 4 jährigen Jungen mit Trisomie 13 wird beschrieben. Der Junge weist keine erkennbaren kardialen oder zerebralen Mißbildungen auf, leidet jedoch an schwerer psychomotorischer Retardierung, Muskelhypotonie, zerebralen Krampfanfällen, bilateralem Buphthalmus und bilateraler Atrophie des N. opticus. In allen analysierten Mitosen aus Lymphozyten und Hautfibroblasten fand sich eine Trisomie 13. Diskussion: Dieser Fall soll daran erinnern, daß Trisomie 13 mit einem langfristigen Überleben vereinbar ist.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050145
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  • 3
    Electronic Resource
    Electronic Resource
    Diagnose und Behandlung des Ornithintranscarbamylase(OTC)-Mangels (1998)
    Springer
    Monatsschrift Kinderheilkunde 146 (1998), S. 652-658 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter OTC ; Harnstoffzyklus ; Hyperammonämien ; Heterozygotentest ; Key words OTC ; Urea cycle ; Hyperammonemia ; Heterozygotes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Ornithine transcarbamylase deficiency is the most frequent inborn error of metabolism of the urea cycle which causes severe hyperammonemia in hemizygous boys within the first days of life. However, also girls heterozygous for this x-linked disorder can develop life-threatening hyperammonemia and chronic progressive encephalopathy. This paper describes the emergency treatment of first manifestations including all necessary diagnostic measures as well as the longterm therapy and its control. Enclosed are the details about the allopurinol challenge test for the detection of heterozygous women and girls.
    Notes: Zusammenfassung Der Ornithintranscarbamylasemangel ist der häufigste angeborene Defekt des Harnstoffzyklus. Er wird im Gegensatz zu anderen akut verlaufenden angeborenen Stoffwechselerkrankungen X-chromosomal vererbt. Betroffene Jungen zeigen in der Regel schon in den ersten Lebenstagen infolge einer sich ausbildenden Hyperammonämie schwere klinische Symptome wie zunehmende Lethargie, Erbrechen, Krampfanfälle und Koma. Aber auch Überträgerinnen können lebensbedrohliche Hyperammonämien sowie progrediente chronische Enzephalopathiesyndrome entwickeln. Die Notfallbehandlung bei der Erstmanifestation inklusive aller diagnostischer/differentialdiagnostischer Maßnahmen sowie die Langzeittherapie und Stoffwechselüberwachung dieser Patienten sind in der vorliegenden Arbeit beschrieben. Zusätzlich wird über den Allopurinoltest berichtet, der zur Erfassung Heterozygoter verwendet wird.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050305
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  • 4
    Electronic Resource
    Electronic Resource
    Surgical treatment of nesidioblastosis (1986)
    Springer
    Pediatric surgery international 1 (1986), S. 26-29 
    Details
    ISSN: 1437-9813
    Keywords: Hyperinsulinism ; Hypoglycaemia ; Pancreatectomy ; Pancreatic disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This report comprises ten children with hyperinsulinaemic hypoglycaemia who did not respond to medical management and required surgical treatment. Eight were infants under the age of 1 year while two were children aged 3.5 and 5 years, respectively. In each case the diagnosis of nesidioblastosis was confirmed at operation by frozen section histopathological examination and a 95% pancreatectomy was performed. No patient developed recurrent hypoglycaemia, although transient hyperglycaemia, which temporarily required insulin therapy, appeared in five children. All ten patients are now normoglycaemic without treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00171778
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  • 5
    Electronic Resource
    Electronic Resource
    Stable isotopes in inborn errors of metabolism (1997)
    Springer
    European journal of pediatrics 156 (1997), S. S1 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014263
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  • 6
    Electronic Resource
    Electronic Resource
    Dietary treatment in late-onset acid maltase deficiency (1997)
    Springer
    European journal of pediatrics 156 (1997), S. S39 
    Details
    ISSN: 1432-1076
    Keywords: Key words Acid maltase deficiency ; Glycogen storage disease ; Diet ; Alanine ; Stable isotope
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Late-onset acid maltase deficiency or glycogen storage disease type II (GSD II) is a rare disorder of intralysosomal glycogen metabolism, resulting in progressive myopathy that is secondary to increased muscle protein breakdown. Stable isotope studies in the postabsorptive state have confirmed that mean protein breakdown in GSD II is increased by 31% compared to control subjects, 6.86 versus 4,69 g/kg per day, that mean protein balance is reduced in GSD II –1.32 versus –1.06 g/kg per day. Indirect calorimetry has demonstrated an increase in mean resting energy expenditure in GSD II, 41.8 versus 31.2 kcal/kg per day. Compliance following the introduction of a high-protein diet is often poor due to the large quantities of protein necessary and to the high caloric intake with the consequent weight gain. Only 25% of all reported subjects with GSD II showed an improvement of muscle or respiratory function after a high-protein diet. Careful evaluation of the underlying pathophysiological changes in GSD II is necessary to develop more logical and therefore more beneficial forms of dietary treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014270
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  • 7
    Electronic Resource
    Electronic Resource
    The early detection and management of inborn errors presenting acutely in the neonatal period (1985)
    Springer
    European journal of pediatrics 143 (1985), S. 253-257 
    Details
    ISSN: 1432-1076
    Keywords: Acute liver disease ; Metabolic acidosis ; Hyperammonaemia ; Hypoglycaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442296
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  • 8
    Electronic Resource
    Electronic Resource
    Mitochondrial phosphoenolpyruvate carboxykinase deficiency (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 46-50 
    Details
    ISSN: 1432-1076
    Keywords: Phosphoenolpyruvate carboxykinase ; Hypoglycaemia ; Giant cell hepatitis ; Fanconi syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 3-month-old girl presented with anorexia, failure to thrive and drowsiness. She was mildly icteric with hepatomegaly and peripheral oedema. Disordered liver function tests were associated with the biopsy appearances of a giant cell hepatitis and with a Fanconi syndrome. At the age of 16 weeks she collapsed with profound hypoglycaemia. Fasting also provoked hypoglycaemia with lactic acidaemia. She became increasingly irritable and hypotonic and, although initially liver and renal function improved, she deteriorated and died of hepatocellular failure and septicaemia. A post-mortem revealed massive fatty degeneration of the liver. The activity of phosphoenolpyruvate carboxykinase in her cultured skin fibroblasts was 16% of controls. Her brother died at the age of 4 weeks of sudden infant death syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441851
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  • 9
    Electronic Resource
    Electronic Resource
    The use of metronidazole in management of methylmalonic and propionic acidaemias (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 792-796 
    Details
    ISSN: 1432-1076
    Keywords: Methylmalonic acidaemia ; Propionic acidaemia ; Metronidazole ; Gut bacteria ; Propionate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Gut bacteria have been implicated as an important source of propionate in children with inborn errors of propionate metabolism. We have investigated the value of oral metronidazole (10–20 mg/kg per day) in five children with methylmalonic acidaemia (MMA) and four with propionic acidaemia (PA). Urinary excretion of propionate metabolites fell significantly during the treatment in all subjects, the mean decrease being 41% (range 12–76,P〈0.01), while mean plasma propionate was reduced from 45.0 μmol/l to 25.1 μmol/l (P〈0.05). Substantial reduction of the gut bacterial population was confirmed by lactulose breath hydrogen tests and by stool culture, and stool propionate concentration was reduced in most subjects. Clinical improvement was noted in three children. These results suggest that long-term antimicrobial therapy may offer significant clinical benefit to children with inborn errors of propionate metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957284
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  • 10
    Electronic Resource
    Electronic Resource
    Cardiomyopathy in propionic acidaemia (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 441-445 
    Details
    ISSN: 1432-1076
    Keywords: Cardiomyopathy ; Propionic acidaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Following the death of a patient with propionic acidaemia with a cardiomyopathy we reviewed 19 patients with the same disorder for evidence of cardiomyopathy. Six patients were found to meet the diagnostic criteria. Three patients died and in the other three the cardiac diease resolved completely. All patients were treated with standard therapy and some receivedl-carnitine but this did not seem to influence the eventual outcome. Cardiomyopathy is an important complication of propionic acidaemia and may be rapidly fatal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955907
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