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  • 11
    ISSN: 1432-1076
    Keywords: Methylmalonic acidaemia ; Type 4 renal tubular acidosis ; Chronic renal disease ; Tubulo-interstitial nephritis ; Hyporeninaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.
    Type of Medium: Electronic Resource
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  • 12
    ISSN: 1432-1076
    Keywords: d-lactic acidosis ; Short bowel syndrome ; Lactobacillus ; Kanamycin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two cases of d-lactic acidosis associated with short bowel syndrome are described. The administration of kanamycin to the patients showed a decrease in d-lactate in blood and urine in parallel with disappearance of metabolic acidosis. Bacteriological analyses of the fecal flora showed an increase in Lactobacillus buchneri in the first patient and Lactobacillus fermenti IVa in the second; both bacteria were sensitive to kanamycin. Quantification of in vitro production of d-lactate by each species of bacteria isolated from the feces revealed that Lactobacillus produced more d-lactate than other species of bacteria. These observations indicate that Lactobacillus may play an important role in the induction of d-lactic acidosis in patients with short bowel syndrome.
    Type of Medium: Electronic Resource
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  • 13
    ISSN: 1432-1076
    Keywords: Mitochondrial myopathic symdrome ; Lactic acidosis ; Endothelium ; Ultrastructural study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The quadriceps femoris muscle and the muscularis mucosae of the rectum from two children with mitochondrial myopathic syndrome associated with lactic acidosis were studied by electron microscopy. Striking morphological abnormalities of mitochondria were noted not only in the skeletal but also in the smooth muscle cells. Endothelial cells of blood capillaries distributed in these affected muscles were so greatly swollen that the capillary lumen was almost occluded. In contrast, surface epithelial and glandular epithelial cells of the rectum contained normal mitochondria, and fenestrated capillaries in the propria mucosae remained intact. Long-term ischemia resulting from occlusive changes of the capillary wall may be responsible for the mitochondrial alterations of muscle cells.
    Type of Medium: Electronic Resource
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  • 14
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 144 (1985), S. 37-40 
    ISSN: 1432-1076
    Keywords: Serum bile acid ; Breast milk jaundice
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breastor bottle-fed infants without jaundice. However, there were no significant differences between the groups. All the breast-fed infants examined, regardless of association with jaundice, had a bile acid pattern dominated by taurine conjugates (the ratio of glycine- to taurine-conjugated bile acid, G/T ratio, less than 1.00). In contrast, the bottle-fed infants without jaundice had a pattern dominated by glycine conjugates (G/T ratio, more than 1.00). Among the breast-fed infants with jaundice, the mean G/T ratio in those who had serum bilirubin levels over 10 mg/100 ml was significantly lower than that in those who had serum bilirubin levels of less than 10 mg/100 ml. The altered bile acid metabolism might be associated with the pathology of breast milk jaundice.
    Type of Medium: Electronic Resource
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  • 15
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 146 (1987), S. 221-227 
    ISSN: 1432-1076
    Keywords: Non-ketotic hyperglycinaemia ; Glycine cleavage enzyme
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstracts Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism characterized by elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The fundamental defect was found to lie in the glycine cleavage system. It is of significance that the major pathway for the catabolism of glycine was elucidated through the studies of hyperglycinaemia. The present knowledge about non-ketotic hyperglycinaemia is described in clinical and biochemical aspects.
    Type of Medium: Electronic Resource
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  • 16
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 540-540 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 17
    ISSN: 1432-1076
    Keywords: Lipoprotein-X ; γ-Glutamyltranspeptidase ; Biliary atresia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract As simple and nonsurgical means of differentiating biliary atresia (BA) from intrahepatic cholestasis of unknown origin (IC), liver function tests including serum lipoprotein-X (LP-X) and γ-glutamyltranspeptidase (GGTP) were done and evaluated for their usefulness in the diagnosis of 27 cholestatic Japanese young infants. Except for LP-X and GGTP levels (P〈0.01, P〈0.001), there were no significant differences between the BA (n=11) and IC (n=13) groups. When values of mean plus 4 standard deviations were used to differentiate BA from IC (89 mg/100 ml for LP-X and 194 IU/l for GGTP), all BA patients gave positive results for either the crtical LP-X of GGTP values. On the other hand, all IC patients gave negative results for both levels, although patients with a paucity of intrahepatic biliary ducts (n=3) were also positive for either the critical LP-X or GGTP values. The combination test with serum LP-X and GGTP is recommended for helping to differntiate BA from IC in cholestatic young infants.
    Type of Medium: Electronic Resource
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  • 18
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 148 (1988), S. 267-269 
    ISSN: 1432-1076
    Keywords: Valproic acid ; Hyperammonaemia ; Aminoacidaemia ; Mitochondrial dysfunction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Serum amino acid pattern, blood ammonia, and serum valproic acid (VPA) levels were estimated in 75 epileptic children with and without VPA therapy. The incidence of patients with hyperammonaemia (〉60 μmol/l) in patients treated with only VPA or with a combination of VPA and other antiepileptic drugs was 19% and 20% respectively. Hyperammonaemia was not observed in patients receiving other drugs. Elevated levels of serum glycine, alanine and serine were more common in epileptic patients treated with VPA alone and with VPA in combination with other drugs than in patients receiving other drugs. A significant positive correlation was found between the serum levels of glycine and alanine, of glycine and serine, and of serine and alanine. These findings may indicate a mitochondrial dysfunction caused by VPA.
    Type of Medium: Electronic Resource
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  • 19
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 154-159 
    ISSN: 1432-1076
    Keywords: Medium-chain acyl-CoA dehydrogenase deficiency ; Sudden infant death ; Reye syndrome ; Mass screening ; DNA diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency. This mutation is responsible for about 90% of mutant MCAD alleles in Caucasians. Patients with this type of mutation have a variety of symptoms, indicating that the clinical heterogeneity of MCAD deficiency may not be caused entirely by genetic heterogeneity. Screening for the mutation among newborns in England, Australia, and United States of America indicates the prevalence of carriers to be 1 in 40–107, suggesting the high incidence of the mutation. Since presymptomatic diagnosis and appropriate dietary management are important in MCAD deficiency to prevent life-threatening complications, the relatively high incidence of this disorder may warrant population screening. The most common MCAD mutation can now be detected by DNA diagnostic methods using Guthrie cards. This makes it possible to screen a population efficiently for this potentially fatal disorder.
    Type of Medium: Electronic Resource
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  • 20
    ISSN: 1432-1076
    Keywords: Vitamin B12 unresponsive methylmalonic acidemia ; Protein intolerance ; Dietary therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The biochemical and therapeutic responses to dietary therapy were studied in a 25-month-old girl and a 1-month-old girl with methylmalonic acidemia (MMA-emia), which was unresponsive to vitamin B12. The minimum daily intake of protein which patients could tolerate and display a good development was between 1.0 and 1.2 g per kg body weight. Supplementation with amino acid mixture devoid of toxic amino acids was required to prevent protein malnutrition when daily protein intake was restricted to 0.6 g per kg body weight. Caloric intake should be sufficient, not only to promote growth but also to prevent a rise in MMA level, especially when a patient has ketoacidosis. It was found that MMA excretion per mg creatinine in random urine specimens correlated significantly with serum MMA and twenty four-hour output of MMA per kg body weight. Therefore measurement of MMA in a single urine specimen is useful for evaluating the in vivo accumulation of MMA.
    Type of Medium: Electronic Resource
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