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  • 1
    Electronic Resource
    Electronic Resource
    Behandlung des hyperammonämischen Komas bei Neugeborenen und Säuglingen durch Hämodialyse oder Hämofiltration (1997)
    Springer
    Monatsschrift Kinderheilkunde 145 (1997), S. 714-718 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Hyperammonämie ; Harnstoffzyklusdefekte ; Organoazidurien ; Hämodialyse ; Hämofiltration ; Key words Hyperammonaemia ; Urea cycle disorders ; Organic acidemias ; Haemodialysis ; Haemofiltration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Inborn errors of the urea cycle and of the organic acid metabolism can cause acute hyperammonemia in neonates which, if untreated, leads to coma, severe brain damage or death. These complications, however, can be prevented by proper diagnosis and early therapeutic intervention. Rapid decline in ammonia blood levels are essential and can be achieved by the following four therapeutic principles 1. restriction of protein intake (while maintaining essential amino acids), 2. reduction of protein catabolism by a hypercaloric diet, 3. activation of alternative pathways of ammonia elimination, and 4. elimination of ammonia from the circulation by dialysis. We report on 4 cases who were submitted because of acute hyperammonemic coma. All patients were treated immediately after diagnosis with hemodialysis (HD) or hemofiltration (HF). In all 4 patients blood ammonia levels were rapidly decreased to normal values leading to significant improvements of the neurologic state. The long term outcomes were, however, determined by the underlying metabolic disorder. Discussion: Our case reports confirm the effectiveness of HD and HF in the treatment of acute hyperammonemic coma. Since the diagnosis and the prognosis of metabolic disorders are rarely known at the time when the patient becomes symptomatic and needs therapy, any neonate with acute hyperammonemia should be referred to a special care unit where technical facilities for extracorporal dialysis are available.
    Notes: Zusammenfassung Das hyperammonämische Koma ist eine akut lebensbedrohliche Stoffwechselentgleisung. Die häufigsten kongenitalen Ursachen sind Enzymdefekte im Harnstoffzyklus und im Abbau von organischen Säuren. Die Frühdiagnose und eine sofortige aggressive Therapie sind die entscheidenden Voraussetzungen zur Vermeidung irreversibler Hirnschäden und letaler Verläufe. Das Therapieziel ist eine rasche Senkung des Ammoniaks und anderer neurotoxischer Metaboliten. Die therapeutischen Grundprinzipien beinhalten 1. eine restriktive Proteinzufuhr unter dem Erhalt essentieller Aminosäuren, 2. die Unterbrechung des Proteinkatabolismus mittels hochkalorischer Ernährung, 3. eine medikamentöse Aktivierung alternativer Wege der Stickstoffausscheidung sowie 4. apparative Blutreinigungsverfahren. Das optimale Dialyseverfahren ist umstritten. Wir haben 4 Neugeborene und Säuglinge in einem hyperammonämischen Koma im Rahmen von Stoffwechselerkrankungen mittels Hämodialyse oder Hämofiltration behandelt. Die Kasuistiken bestätigen die Effektivität und Komplikationsarmut beider Verfahren. Diskussion: In der Behandlung von lebensbedrohlichen Hyperammonämien bei Neugeborenen und Säuglingen sind Hämodialysen und Hämofiltrationen die Behandlungsmethoden der Wahl. Die invasive Blutreinigung ist mit einer konsequenten diätetischen und medikamentösen Therapie zu optimieren. Der prognostische Nutzen einer effizienten Blutreinigung bei ausgeprägter Hyperammonämie rechtfertigt einen unverzüglichen Transport in das nächstgelegene pädiatrische Dialysezentrum.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050173
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  • 2
    Electronic Resource
    Electronic Resource
    Erstmanifestation eines Abbaudefekts überlangkettiger Fettsäuren (VLCADD) mit letalem Ausgang (1998)
    Springer
    Monatsschrift Kinderheilkunde 146 (1998), S. 484-486 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Acyl-CoA-Dehydrogenase-Defekt überlangkettiger Fettsäuren ; Dikarbonazidurie ; Hypertrophische Kardiomyopathie ; Key words Very-long-chain acyl-CoA dehydrogenase deficiency ; Dicarboxylic aciduria ; Hypertrophic cardiomyopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare disorder of the mitochondrial β-oxidation pathway. A female infant at 2,5 months of age presented with coma, cardiorespiratory arrest, hypoketotic hypoglycemia, hepatomegaly and hypertrophic cardiomyopathy. Urinary dicarboxylic acid profile suggested VLCADD. This diagnosis was confirmed by reduced enzyme activity in fibroblasts (20% of controls). After a few days the infant died of peritonitis caused by a penetrating ulcer of the duodenum. Discussion: A higher incidence of upper gastrointestinal ulcera is reported in patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). VLCADD is characterized by early onset and high mortality due to cardiac disease. Gastrointestinal complications may contribute to or be directly responsible for death.
    Notes: Zusammenfassung Der Acyl-CoA-Dehydrogenasedefekt überlangkettiger Fettsäuren (very-long-chain acyl-CoA dehydrogenase deficiency, VLCADD) ist eine seltene Störung der mitochondrialen β-Oxidation. Wir berichten über einen weiblichen Säugling, bei dem im Alter von 2,5 Monaten im Rahmen eines Infekts Koma, Herz- und Atemstillstand, hypoketotische Hypoglykämie, Hepatomegalie und hypertrophe Kardiomyopathie auftraten. Ein charakteristisches Dikarbonsäurenmuster im Urin führte zu der Verdachtsdiagnose eines VLCADD, der durch den Nachweis einer auf 20% der Norm herabgesetzten Enzymaktivität in kultivierten Fibroblasten bestätigt wurde. Das Kind verstarb nach wenigen Tagen an einer Peritonitis infolge eines perforierten Ulcus duodeni. Diskussion: Ein gehäuftes Auftreten penetrierender Ulzera des oberen Magen-Darm-Trakts wurde bereits im Zusammenhang mit dem Abbaudefekt mittelkettiger Fettsäuren (medium-chain acyl-CoA dehydrogenase deficiency, MCADD) beschrieben. VLCADD ist charakterisiert durch frühe Erstmanifestation und eine hohe Mortalität, die v.a. auf die Kardiomyopathie zurückgeführt wird, zu der aber auch gastrointestinale Komplikationen beitragen können.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050290
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  • 3
    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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  • 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
    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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  • 6
    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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  • 7
    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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  • 8
    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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  • 9
    Electronic Resource
    Electronic Resource
    A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 32-37 
    Details
    ISSN: 1432-1076
    Keywords: Neurometabolic disease ; Organic aciduria ; 2-oxoglutarate dehydrogenase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A boy and a girl born to a consanguineous Tunisian couple are suffering from a slowly progressive nervous disorder. Initially they both had normal psychomotor development with acquisition of gait and speech. First symptoms in the boy were athetoid movements during the second year of life. He later lost all motor and language skills and developed muscular rigidity and intention tremor. At the age of five years, he was completely bedridden while he appeared mentally much less affected. His younger sister followed a similar course. The major specific abnormality detected was a strikingly elevated excretion of 2-oxoglutaric acid, which was identified by gas liquid chromatography, mass spectrometry, and enzymatic analysis. 2-oxoglutarate dehydrogenase activity in homogenates of cultured skin fibroblasts was reduced to about 25% of control values in both children. Although the pathogenetic mechanisms leading to brain damage remain obscure, the finding strongly suggest an autosomal recessive neurometabolic disease with predominant involvement of the extrapyramidal system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442325
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  • 10
    Electronic Resource
    Electronic Resource
    Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 56-59 
    Details
    ISSN: 1432-1076
    Keywords: Glutaric aciduria type II ; Multiple acyl-CoA dehydrogenase deficiency ; Organic aciduria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two male siblings suffering from a severe form of glutaric aciduria type II were studied. One patient died within one hour after birth, the other at the age of five days. Both patients presented with respiratory distress soon after birth. They had a variety of congenital morphologic abnormalities. One patient's outstanding “sweaty-feet” odour on the second day of life led to organic acid analysis of urine revealing massive lactic, glutaric, and ethylmalonic aciduria along with a high excretion of various other carboxylic acids and glycine conjugates of the branched chain carboxylic acids. The pattern of metabolites in serum and urine as well as results of degradation studies with various substrates in cultured fibroblasts were consistent with a defect in multiple acyl-CoA dehydrogenation. The morphological abnormalities are presented in a subsequent paper.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442081
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