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  • 1
    Electronic Resource
    Electronic Resource
    A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 75-81 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mitochondrial myopathies and encephalopathies can be caused by nucleotide substitutions, deletions or duplications of the mitochondrial DNA (mtDNA). In one such disorder, Kearns-Sayre Syndrome (KSS), large-scale hetero-plasmic mtDNA deletions are often found. We describe a 14-year-old boy with clinical features of KSS, plus some additional features. Analysis of the entire mitochondrial genome by the polymerase chain reaction and Southern blotting revealed a 7864-bp mtDNA deletion, heteroplasmic in its tissue distribution. DNA sequencing established that the deletion was between nucleotides 6238 and 14103, and flanked by a 4-bp (TCCT) direct repeat sequence. Deletions between direct repeats have been hypothesised to occur by a slipped-mismatching or illegitimate recombination event, or following the DNA cleavage action of topoisomerase II. Analysis of the gene sequence in the region surrounding the mtDNA deletion breakpoint in this patient revealed the presence of putative vertebrate topoisomerase II sites. We suggest that direct repeat sequences, together with putative topoisomerase II sites, may predispose certain regions of the mitochondrial genome to deletions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00225079
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  • 2
    Electronic Resource
    Electronic Resource
    A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 382-383 
    Details
    ISSN: 1432-1076
    Keywords: Key words Malonyl coenzyme A decarboxylase deficiency  ;  Cardiomyopathy  ;  Inborn errors of metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new case of mitochondrial malonyl coenzyme A decarboxylase deficiency is described. The patient presented with an initial episode of metabolic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of age for developmental delay revealed a prominent elevation of malonic acid in urine. Malonyl carnitine was also elevated. The activity of malonyl CoA decarboxylase in cultured fibroblasts was 7% of normal. Conclusion Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050619
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  • 3
    Electronic Resource
    Electronic Resource
    Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate (1997)
    Springer
    Journal of inherited metabolic disease 20 (1997), S. 39-42 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A neonate at risk for succinic semialdehyde dehydrogenase deficiency was investigated on day 1. The urine level of 4-hydroxybutyrate was only slightly elevated (23 µmol/mmol of creatinine; controls 1.6-14, n=18). This value was considerably less than those found for older children with succinic semialdehyde dehydrogenase deficiency and made interpretation of the result uncertain. The diagnosis of succinic semialdehyde dehydrogenase deficiency was confirmed by enzyme assay, and repeat urine testing showed a steady increase in the level of 4-hydroxybutrate to 359 µmol/mmol at 6 months.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005353305705
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  • 4
    Electronic Resource
    Electronic Resource
    Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 382-390 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We identified a patient who excreted large amounts of methylmalonic acid and malonic acid. In contrast to other patients who have been described with combined methylmalonic and malonic aciduria, our patient excreted much larger amounts of methylmalonic acid than malonic acid. Since most previous patients with this biochemical phenotype have been reported to have deficiency of malonyl-CoA decarboxylase, we assayed malonyl-CoA decarboxylase activity in skin fibroblasts derived from our patient and found the enzyme activity to be normal. We examined four isocaloric (2000 kcal/day) dietary regimes administered serially over a period of 12 days with 3 days devoted to each dietary regimen. These diets were high in carbohydrate, fat or protein, or enriched with medium-chain triglycerides. Diet-induced changes in malonic and methylmalonic acid excretion became evident 24–36 h after initiating a new diet. Total excretion of malonic and methylmalonic acid was greater (p〈0.01) during a high-protein diet than during a high-carbohydrate or high-fat diet. A high-carbohydrate, low-protein diet was associated with the lowest levels of malonic and methylmalonic acid excretion. Perturbations in these metabolites were most marked at night. On all dietary regimes, our patient excreted 3–10 times more methylmalonic acid than malonic acid, a reversal of the ratios reported in patients with malonyl-CoA decarboxylase deficiency. Our data support a previous observation that combined malonicand methylmalonic aciduria has aetiologies other than malonyl-CoA decar-boxylase deficiency. The malonic acid to methylmalonic acid ratio in response to dietary intervention may be useful in identifying a subgroup of patients with normal enzyme activity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005302607897
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  • 5
    Electronic Resource
    Electronic Resource
    A novel mtDNA deletion in an infant with Pearson syndrome (1994)
    Springer
    Journal of inherited metabolic disease 17 (1994), S. 521-526 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Pearson syndrome is a multisystem mitochondrial disorder of infancy that is associated with deletions in the mitochondrial DNA (mtDNA) genome. We report a study on a male infant with Pearson syndrome. Assessment of oxidative phosphorylation activity indicated combined respiratory-chain defects in muscle, liver and fibroblasts; in particular, activity of complex I was reduced. Analysis of the patient's mtDNA identified a novel heteroplasmic 2.461 kb deletion, present at levels greater than 50% of the total mtDNA in the tissues examined. The deletion spanned nucleotides 10368 to 12828 and was flanked by a 3 bp GCC direct repeat sequence. Gene sequences affected are subunits 3, 4, 4L and 5 of complex I, and tRNAs for arginine, histidine, serine and leucine. Our findings correlate with the multiorgan involvement observed in Pearson syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00711584
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  • 6
    Electronic Resource
    Electronic Resource
    Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis (2000)
    Springer
    Journal of inherited metabolic disease 23 (2000), S. 845-846 
    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:1026721021233
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  • 7
    Electronic Resource
    Electronic Resource
    A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency (1993)
    Springer
    Journal of inherited metabolic disease 16 (1993), S. 942-949 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Succinic semialdehyde dehydrogenase (SSAD) is an enzyme involved in the turnover of the neurotransmitter 4-aminobutyrate (GABA). Deficiency of SSAD results in developmental delay, ataxia, seizures and 4-hydroxybutyric aciduria. We have developed a simple fluorimetric assay for the enzyme and applied it to measurement of SSAD activity in a range of cell types often used for prenatal and postnatal diagnosis of enzyme defects. Lymphocytes from children with SSAD deficiency were found to have 〈5% of the activity found in lymphocytes from normal children. Heterozygotes are asymptomatic and have intermediate enzyme activities. Although SSAD activity has been detected previously in uncultured chorionic villi, we found that SSAD was not expressed in cultured chorionic villus cells nor in some fibroblast-like amniocytes from control fetuses. Lymphocytes from fetal blood and non-fibroblastic amniocytes have high SSAD activities, and should be suitable for prenatal diagnosis of SSAD deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00711509
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  • 8
    Electronic Resource
    Electronic Resource
    Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation (1999)
    Springer
    Journal of inherited metabolic disease 22 (1999), S. 899-914 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two pathogenic mitochondrial DNA mutations, a T-to-G substitution (8993T〉G) and a T-to-C substitution (8993T〉C), at nucleotide 8993 have been reported. We describe 13 pedigrees with mitochondrial DNA mutations at nucleotide 8993; 10 pedigrees with the 8993T〉G mutation and three with the 8993T〉C mutation. Prenatal diagnosis of the nucleotide 8993 mutations is technically possible. However, there are three major concerns: (i) that there is variation in mutant loads among tissues; (ii) that the mutant load in a tissue may change over time; and (iii) that the genotype–phenotype correlation is not clearly understood. We have used the 13 pedigrees to determine specifically the extent of tissue- and age-related variation of the two mutations at nucleotide 8993 in the mitochondrial DNA. The tissue variation was investigated by analysing two or more different tissues from a total of 18 individuals. The age-related variation of the mutation was investigated by comparing the amount of both mutations in blood taken at birth and at a later age. No substantial tissue variation was found, nor was there any substantial change in the proportion of either mutation over periods of 8–23 years in the four individuals studied. In addition, we noted that two features were remarkably common in families with nucleotide 8993 mutations, namely (i) unexplained infant death (8 cases in 13 pedigrees), and (ii) de novo mutations (5 of the 10 8993T〉G pedigrees).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005639407166
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